Number 1 | January 2022
Prevalence and incidence of rare diseases:
Bibliographic data
Prevalence, incidence or number of published cases
listed by diseases (in alphabetical order)
www.orpha.net
www.orphadata.org
Methodology
is favoured (registries, meta-analyses, population-based studies,
large cohorts studies).
Orphanet carries out a systematic survey of literature in order to
estimate the prevalence and incidence of rare diseases. This
study aims to collect new data regarding point prevalence, birth
prevalence and incidence, and to update already published data
according to new scientific studies or other available data.
For congenital diseases, the prevalence is estimated, so that:
Prevalence = birth prevalence x (patient life expectancy/general
population
life
expectancy).
When only incidence data is documented, the prevalence is
estimated
when
possible,
so
that
:
Prevalence = incidence x disease mean duration.
This data is presented in the following reports published
biannually:
•
Prevalence, incidence or number of published cases
listed by diseases (in alphabetical order);
•
Diseases listed by decreasing prevalence, incidence
or number of published cases;
When neither prevalence nor incidence data is available, which
is the case for very rare diseases, the number of cases or families
documented in the medical literature is provided.
Limitations of the study
Data collection
A number of different sources are used :
•
Registries (RARECARE, EUROCAT, etc) ;
•
National/international health institutes and agencies
(Institut National de Veille Sanitaire (French Institute
of Health Surveillance); American Center of Disease
Control and Prevention, American National Cancer
Institute, European Medicines Agency, World Health
Organization etc) ;
•
Medline is consulted using the following search
algorithm
:
«Disease
names»
AND
Epidemiology[MeSH:NoExp]
OR
Incidence[Title/abstract]
OR
Prevalence[Title/
abstract] OR Epidemiology[Title/abstract];
•
Medical texts, grey literature and reports from experts;
•
Orphanet collaborating experts
Data characteristics
The data published in this document are worldwide estimations,
or European estimations if a worldwide estimation is not
available.
The prevalence and incidence data presented in this report are
only estimations and cannot be considered to be absolutely
correct.
The average values presented in this report do not take into
account the heterogeneous nature of the methodologies
employed by the studies considered in the literature survey.
The validity and exactitude of raw data sources is taken for
granted and have not been verified. Thus, confusion between
terms such as incidence and prevalence and/or birth prevalence
is possible due to the interchangeable use of these terms in
certain
sources.
It is possible that prevalence is overestimated in some cases as
epidemiological studies are generally based on hospital data in
regions with higher prevalence.
Data presentation
Without specification, published figures are worldwide.
An asterisk * indicates European data.
P indicates prevalence data
I indicates incidence data.
BP indicates birth prevalence
Please note that this is just a selection of Orphanet's rare
disease epidemiological data. Currently 6053 rare diseases are
annotated with prevalence or incidence information in the
Orphanet database. To access the complete data sets visit
Orphadata (www.orphadata.org).
The published data is raw collected data or extrapolations of
raw data at worldwide or European level when no genetic
founder effect is suspected as a cause of a disease.
If a range of national data is available, the average is calculated
to estimate the worldwide or European prevalence or
incidence.When a range of data sources is available, the most
recent data source that meets a certain number of quality criteria
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
2
Prevalence, incidence or number of
published cases listed by diseases (in
alphabetical order)
ORPHACod
e
300305
444002
Disease
or Group of diseases
11p15.4 microduplication
syndrome
11q22.2q22.3 microdeletion
syndrome
313884
12p12.1 microdeletion syndrome
94063
12q14 microdeletion syndrome
289513
12q15q21.1 microdeletion
syndrome
412035
13q12.3 microdeletion syndrome
261120
14q11.2 microdeletion syndrome
261229
264200
401935
14q32 duplication syndrome
314585
15q overgrowth syndrome
261183
15q11.2 microdeletion syndrome
238446
15q11q13 microduplication
syndrome
199318
15q13.3 microdeletion syndrome
261190
15q14 microdeletion syndrome
94065
15q24 microdeletion syndrome
261204
485405
261236
5 Cases
16p11.2p12.2 microdeletion
syndrome
16p11.2p12.2 microduplication
syndrome
16p12.1p12.3 triplication
syndrome
16p13.11 microdeletion
syndrome
261243
16p13.11 microduplication
syndrome
500055
16p13.2 microdeletion syndrome
96078
16p13.3 microduplication
syndrome
Disease
or Group of diseases
352629
16q24.1 microdeletion syndrome
261250
16q24.3 microdeletion syndrome
217385
17p13.3 microduplication
syndrome
97685
17q11 microdeletion syndrome
139474
17q11.2 microduplication
syndrome
261265
17q12 microdeletion syndrome
261272
17q12 microduplication
syndrome
27 Cases
50 Cases
170
Cases
7 Cases
11 Cases
103
Cases
22 Cases
6 Cases
3 Cases
3 Cases
14q11.2 microduplication
syndrome
14q22q23 microdeletion
syndrome
14q24.1q24.3 microdeletion
syndrome
488280
261211
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
1 Family
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
42 Cases
7 Cases
5 Cases
3 Cases
33 Cases
12 Cases
363958
261279
529962
254346
357001
447980
217346
17q21.31 microdeletion
syndrome
17q23.1q23.2 microdeletion
syndrome
118
Cases
1.82 P*
7 Cases
19 Cases
17q24.2 microdeletion syndrome
19p13.12 microdeletion
syndrome
19p13.13 microdeletion
syndrome
19p13.3 microduplication
syndrome
19q13.11 microdeletion
syndrome
200
Cases
293948
1p21.3 microdeletion syndrome
30 Cases
401986
1p31p32 microdeletion
syndrome
246
Cases
456298
1p35.2 microdeletion syndrome
250994
1q21.1 microduplication
syndrome
238769
1q44 microdeletion syndrome
6 Cases
7 Cases
6 Cases
12 Cases
9 Cases
5 Cases
2 Cases
46 Cases
9 Cases
100
Cases
30 Cases
2-aminoadipic 2-oxoadipic
aciduria
2-methylbutyryl-CoA
dehydrogenase deficiency
8 Cases
79154
7 Cases
79157
3 Cases
261295
20p12.3 microdeletion syndrome
313781
20p13 microdeletion syndrome
444051
20q11.2 microdeletion syndrome
261323
21q22.11q22.12 microdeletion
syndrome
567
22q11.2 deletion syndrome
7.0 BP
162
Cases
6 Cases
20 Cases
30 Cases
3 Cases
4 Cases
11 Cases
14 Cases
9.6 BP*
27 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
3
ORPHACod
e
Disease
or Group of diseases
567
22q11.2 deletion syndrome
363680
2p13.2 microdeletion syndrome
261349
2p15p16.1 microdeletion
syndrome
163693
2p21 microdeletion syndrome
369881
2p21 microdeletion syndrome
without cystinuria
228402
2q23.1 microdeletion syndrome
313947
2q23.1 microduplication
syndrome
1617
2q24 microdeletion syndrome
251019
2q32q33 microdeletion
syndrome
1001
2q37 microdeletion syndrome
35701
3-hydroxy-3-methylglutaryl-CoA
synthase deficiency
939
3-hydroxyisobutyric aciduria
6
67046
445038
505208
505216
79351
79350
3-methylcrotonyl-CoA
carboxylase deficiency
3-methylglutaconic aciduria type
1
3-methylglutaconic aciduria type
7
3-methylglutaconic aciduria type
8
3-methylglutaconic aciduria type
9
3-phosphoglycerate
dehydrogenase deficiency,
infantile/juvenile form
3-phosphoserine phosphatase
deficiency, infantile/juvenile
form
7
3C syndrome
2616
3M syndrome
293843
3MC syndrome
435638
3p25.3 microdeletion syndrome
1621
3q13 microdeletion syndrome
96095
3q26 microduplication syndrome
356947
3q26q27 microdeletion
syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
37.5 BP
ORPHACod
e
Disease
or Group of diseases
397695
3q27.3 microdeletion syndrome
2 Cases
2975
11 Cases
7 Cases
444048
2 Cases
2138
18 Cases
2138
2 Cases
393
23 Cases
90796
25 Cases
115
Cases
443087
9 Cases
168558
13 Cases
168563
2.65 BP*
46,XX disorder of sex
development-skeletal anomalies
syndrome
46,XX ovarian dysgenesis-short
stature syndrome
46,XX ovotesticular disorder of
sex development
46,XX testicular disorder of sex
development
46,XY disorder of sex
development due to isolated
17,20-lyase deficiency
46,XY disorder of sex
development due to testicular
17,20-desmolase deficiency
46,XY disorder of sex
development-adrenal
insufficiency due to CYP11A1
deficiency
46,XY gonadal dysgenesis-motor
and sensory neuropathy
syndrome
8
47,XYY syndrome
22 Cases
96263
48,XXXY syndrome
9 Cases
10
48,XXYY syndrome
4 Cases
99329
48,XYYY syndrome
15 Cases
96264
49,XXXXY syndrome
261534
49,XXXYY syndrome
99330
49,XYYYY syndrome
289494
4H leukodystrophy
200
Cases
238750
4q21 microdeletion syndrome
32 Cases
502437
4q25 proximal deletion
syndrome
8 Cases
217064
5-fluorouracil poisoning
42 Cases
33572
5-oxoprolinase deficiency
100
Cases
329802
5p13 microduplication syndrome
228384
5q14.3 microdeletion syndrome
228415
5q35 microduplication syndrome
25 Cases
4 Cases
2 Cases
3 Cases
500
Cases
46,XX ovotesticular disorder of
sex development
20 Cases
8 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
7 Cases
2.5 BP
2.5 P
15 Cases
2
Families
9 Cases
5 Cases
50.0 BP*
1.0 BP*
1.9 BP*
10 Cases
0.55 BP*
2 Cases
8 Cases
200
Cases
14 Cases
3 Cases
2.0 P*
8 Cases
7 Cases
40 Cases
30 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
4
ORPHACod
e
Disease
or Group of diseases
251046
6p22 microdeletion syndrome
75857
6q16 microdeletion syndrome
251056
6q25 microdeletion syndrome
314034
7p22.1 microduplication
syndrome
96121
7q11.23 microduplication
syndrome
251061
7q31 microdeletion syndrome
96092
8p inverted duplication/deletion
syndrome
251076
228399
284160
178303
508488
324313
531151
401923
495818
439232
324723
Disease
or Group of diseases
100008
ACys amyloidosis
978
ADULT syndrome
4 Cases
85448
AGel amyloidosis
5 Cases
442582
AH amyloidosis
412069
AHDC1-related intellectual
disability-obstructive sleep
apnea-mild dysmorphism
syndrome
250977
AICA-ribosiduria
90081
AIDS wasting syndrome
79085
AKT2-related familial partial
lipodystrophy
85443
AL amyloidosis
85443
AL amyloidosis
85443
AL amyloidosis
35664
ALDH18A1-related De Barsy
syndrome
79327
ALG1-CDG
280071
ALG11-CDG
79324
ALG12-CDG
324422
ALG13-CDG
79326
ALG2-CDG
79321
ALG3-CDG
79320
ALG6-CDG
79325
ALG8-CDG
12 Cases
163
Cases
20 Cases
60 Cases
3 Cases
8p11.2 deletion syndrome
8p23.1 duplication syndrome
ORPHACod
e
1.72 P
4 Cases
8q12 microduplication syndrome
13 Cases
8q21.11 microdeletion syndrome
6 Cases
8q22.1 microdeletion syndrome
2 Cases
8q24.3 microdeletion syndrome
4 Cases
9p13 microdeletion syndrome
10 Cases
9q21.13 microdeletion syndrome
9q31.1q31.3 microdeletion
syndrome
9q33.3q34.11 microdeletion
syndrome
2 Cases
4 Cases
2 Cases
AApoAIV amyloidosis
1 Family
ABeta amyloidosis, Arctic type
100006
ABeta amyloidosis, Dutch type
250
Cases
324708
ABeta amyloidosis, Iowa type
2
Families
79328
ALG9-CDG
93561
ALys amyloidosis
ABeta amyloidosis, Italian type
7
Families
157954
ANE syndrome
ABetaA21G amyloidosis
2
Families
356996
ANK3-related intellectual
disability-sleep disturbance
syndrome
1133
AREDYLD syndrome
314632
ATP13A2-related juvenile
neuronal ceroid lipofuscinosis
324713
324718
324703
ABetaL34V amyloidosis
99892
ACTH-dependent Cushing
syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
9
Families
19 Cases
6q terminal deletion syndrome
171829
251066
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
19 Cases
1 Family
0.55 I
50 Cases
475
Cases
12 Cases
4 Cases
4 Cases
20.0 P*
1 Family
7.75 I*
10.0 P*
40.0 P
32 Cases
57 Cases
8 Cases
11 Cases
1 Case
1 Case
15 Cases
54 Cases
15 Cases
12 Cases
7
Families
5 Cases
5 Cases
3 Cases
4 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
5
ORPHACod
e
Disease
or Group of diseases
401911
AXIN2-related attenuated
familial adenomatous polyposis
915
Aarskog-Scott syndrome
916
Aase-Smith syndrome
14
Abetalipoproteinemia
920
Ablepharon macrostomia
syndrome
99050
Abnormal origin of right or left
pulmonary artery from the aorta
921
Abruzzo-Erickson syndrome
2310
Absence deformity of legcataract syndrome
1658
Absence of fingerprintscongenital milia syndrome
980
Absence of the pulmonary artery
3016
2951
3328
90301
926
Acatalasemia
Aceruloplasminemia
929
Achalasia-microcephaly
syndrome
15
Achondroplasia
15
Achondroplasia
49382
Achromatopsia
424046 Acinar cell carcinoma of pancreas
90065
91385
79086
2221
0.5 BP*
Acitretin/etretinate
embryopathy
Acquired aneurysmal
subarachnoid hemorrhage
91136
100
Cases
228247
16 Cases
200
Cases
4 Cases
2 Cases
10
Families
0.5 I*
2 Cases
3 Cases
3 Cases
5 Cases
3.2 P*
0.09 P
7 Cases
4.0 BP
Acquired von Willebrand
syndrome
263534
Acral peeling skin syndrome
281127
Acral self-healing collodion baby
958
Acro-renal-mandibular syndrome
959
Acro-renal-ocular syndrome
36
Acrocallosal syndrome
2008
Acrocardiofacial syndrome
221054
Acrocephalopolydactyly
949
Acrocraniofacial dysostosis
950
Acrodysostosis
280651
Acrodysostosis with multiple
hormone resistance
2956
Acrodysplasia scoliosis
1786
Acrofacial dysostosis, Catania
type
1787
2.7 P
1788
0.029 I*
26 Cases
10.0 P*
200
Cases
1.0 P*
60 Cases
Acquired monoclonal Ig light
chain-associated Fanconi
syndrome
Acquired pseudoxanthoma
elasticum
99147
64542
3.0 BP*
Acquired angioedema
Acquired generalized
lipodystrophy
Acquired hypertrichosis
lanuginosa
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Acquired idiopathic sideroblastic
0.09 I*
75564
anemia
242
464453
Acquired methemoglobinemia
Cases
10 Cases
Absent radius-anogenital
anomalies syndrome
Absent thumb-short statureimmunodeficiency syndrome
Absent tibia-polydactylyarachnoid cyst syndrome
Acanthosis nigricans-insulin
resistance-muscle cramps-acral
enlargement syndrome
48818
40366
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4
Families
100
Cases
20 Cases
300
Cases
40 Cases
2 Cases
10 Cases
20
Families
38 Cases
10 Cases
8 Cases
2 Cases
80 Cases
40 Cases
2 Cases
2
Families
Acrofacial dysostosis, KennedyTeebi type
Acrofacial dysostosis, Palagonia
type
Acrofacial dysostosis, Rodríguez
type
1784
Acrofrontofacionasal dysostosis
965
Acromegaloid facial appearance
syndrome
963
Acromegaly
39
Acromelanosis
1827
Acromelic frontonasal dysplasia
968
Acromesomelic dysplasia,
Hunter-Thompson type
2 Cases
4 Cases
13 Cases
12 Cases
23 Cases
0.47 I
10 Cases
22 Cases
10 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
6
ORPHACod
e
Disease
or Group of diseases
40
Acromesomelic dysplasia,
Maroteaux type
969
Acromicric dysplasia
363665
Acroosteolysis-keloid-like
lesions-premature aging
syndrome
85203
Acropectorovertebral dysplasia
971
Acrorenal syndrome
163696
Action myoclonus-renal failure
syndrome
284460
83597
363549
293173
217371
466794
370088
98916
5 Cases
25 Cases
30 Cases
20 Cases
38 Cases
18 Cases
Activated PI3K-delta syndrome
12 Cases
Acute annular outer retinopathy
Acute disseminated
encephalomyelitis
Acute encephalopathy with
biphasic seizures and late
reduced diffusion
Acute generalized
exanthematous pustulosis
Acute infantile liver failure due
to synthesis defect of mtDNAencoded proteins
Acute infantile liver failurecerebellar ataxia-peripheral
sensory motor neuropathy
syndrome
Acute infantile liver failuremultisystemic involvement
syndrome
Acute inflammatory
demyelinating
polyradiculoneuropathy
79276
Acute intermittent porphyria
79276
Acute intermittent porphyria
79126
Acute interstitial pneumonia
90062
Acute liver failure
178320
Acute lung injury
513
Acute lymphoblastic leukemia
513
60 Cases
Acropectoral syndrome
957
397596
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
50 Cases
Acute lymphoblastic leukemia
488239
Acute macular neuroretinopathy
518
Acute megakaryoblastic
leukemia
ORPHACod
e
514
98834
98833
283
Cases
0.3 I
Acute myeloid leukemia
519
Acute myeloid leukemia
519
Acute myeloid leukemia
519
Acute myeloid leukemia
98832
98277
517
86843
90064
32 Cases
Acute monoblastic/monocytic
leukemia
Acute myeloblastic leukemia
with maturation
Acute myeloblastic leukemia
without maturation
519
585867
0.6 I*
Disease
or Group of diseases
Acute myeloid leukemia with
minimal differentiation
Acute myeloid leukemia with
recurrent genetic anomaly
Acute myeloid leukemia with
t(9;22)(q34.1;q11.2)
Acute myelomonocytic leukemia
Acute panmyelosis with
myelofibrosis
Acute peripheral arterial
occlusion
520
Acute promyelocytic leukemia
90059
Acute sensorineural hearing loss
by acute acoustic trauma or
sudden deafness or surgery
induced acoustic trauma
139417
Acute transverse myelitis
284454
Acute zonal occult outer
retinopathy
99901
Acyl-CoA dehydrogenase 9
deficiency
55881
Adamantinoma
55881
Adamantinoma
974
Adams-Oliver syndrome
25.0 I*
85138
Addison disease
2.75 I*
2952
Adducted thumbs-arthrogryposis
syndrome, Christian type
11.0 P*
213504
Adenocarcinoma of ovary
3 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.13 I*
0.02 I*
0.01 I*
2.5 I
3.39 I*
10.0 P*
10.98
0.01 I*
0.11 I*
4.0 I
0.17 I*
0.06 I*
16.0 P*
0.11 I*
40.0 P*
4.72 I
6 Cases
3.1 P*
0.013 I*
0.54 P*
150
Cases
23 Cases
0.01 I*
0.11
3.8 P*
398
Cases
20.0 P*
101
Cases
424016
213772
Adenocarcinoma of the anal
canal
Adenocarcinoma of the cervix
uteri
12.5 P*
9 Cases
5.97 I*
0.253 I*
1.01 I*
0.02 I*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
7
ORPHACod
e
99976
99976
99976
424991
424943
104075
45
Disease
or Group of diseases
Adenocarcinoma of the
esophagus
Adenocarcinoma of the
esophagus
Adenocarcinoma of the
esophagus
Adenocarcinoma of the
gallbladder and extrahepatic
biliary tract
Adenocarcinoma of the liver and
intrahepatic biliary tract
Adenocarcinoma of the small
intestine
Adenovirus infection in
immunocompromised patients
Adenylosuccinate lyase
46
deficiency
Adenylosuccinate synthetase-like
482601
1-related distal myopathy
1501
977
Adrenocortical carcinoma
Adrenocortical carcinoma
Adult T-cell leukemia/lymphoma
2666
Adult familial nephronophthisisspastic quadriparesia syndrome
210159
Adult hepatocellular carcinoma
178487
Adult intestinal botulism
206583
Adult polyglucosan body disease
284289
255132
420492
329478
199351
5.55
2.62 I*
0.412 I*
0.588 I*
100
Cases
18.0 P*
0.75 P*
0.03 I*
2 Cases
2 Cases
3.22 I*
404454
Alacrimia-choreoathetosis-liver
dysfunction syndrome
52
Alagille syndrome
2007
Alar cartilages hypoplasiacoloboma-telecanthus syndrome
319671
Alazami syndrome
53
Albers-Schönberg osteopetrosis
53
Albers-Schönberg osteopetrosis
998
Albinism-deafness syndrome
502444
Alkaline ceramidase 3 deficiency
59
Allan-Herndon-Dudley syndrome
1006
Alopecia antibody deficiency
700
Alopecia totalis
701
Alopecia universalis
1008
8 Cases
0.8 BP*
2 Cases
10 Cases
1.0 P
5.0 P*
1 Family
2 Cases
320
Cases
20
Families
14 Cases
2 Cases
2
Families
9 Cases
14 Cases
0.13 P*
3 Cases
3 Cases
10.5 P*
25.0 P*
Alopecia-contractures-dwarfismintellectual disability syndrome
Alopecia-epilepsy-pyorrheaintellectual disability syndrome
2850
Alopecia-intellectual disability
syndrome
1014
Alopecia-intellectual disabilityhypergonadotropic
hypogonadism syndrome
726
Alpers-Huttenlocher syndrome
726
Alpers-Huttenlocher syndrome
60
Alpha-1-antitrypsin deficiency
50 Cases
Adult-onset distal myopathy due
to VCP mutation
Adult-onset dystoniaparkinsonism
83617
Aicardi-Goutières syndrome
19 Cases
Adult-onset cervical dystonia,
DYT23 type
Agammaglobulinemia
51
1005
3.0 P*
Adult-onset autosomal recessive
cerebellar ataxia
Adult-onset autosomal recessive
sideroblastic anemia
Agammaglobulinemiamicrocephaly-craniosynostosissevere dermatitis syndrome
Disease
or Group of diseases
19 Cases
Adult-onset autosomal dominant
leukodystrophy
183669
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
10.0 P*
56 Cases
Adrenomyodystrophy
86875
99027
0.7 I
Adenosine monophosphate
deaminase deficiency
91127
1501
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3.264 I*
Alpha-B crystallin-related lateonset myopathy
Alpha-N-acetylgalactosaminidase
3137
deficiency
Alpha-N-acetylgalactosaminidase
79279
deficiency type 1
Alpha-N-acetylgalactosaminidase
79280
deficiency type 2
Alpha-N-acetylgalactosaminidase
79281
deficiency type 3
Alpha-dystroglycan-related limb280333
girdle muscular dystrophy R16
399058
5 Cases
12 Cases
15
Families
2 Cases
0.7 BP*
0.07 P*
20.0 P*
17 Cases
20 Cases
10 Cases
10 Cases
10 Cases
1 Case
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
8
ORPHACod
e
Disease
or Group of diseases
100025
Alpha-heavy chain disease
61
847
98791
231401
86818
Alpha-mannosidosis
Alström syndrome
284
Alveolar echinococcosis
1028
Ameloblastic carcinoma
1908
Aminopterin/methotrexate
embryofetopathy
67043
Amoebic keratitis
319635
Amyloidosis cutis dyschromia
803
Amyotrophic lateral sclerosis
803
Amyotrophic lateral sclerosis
803
Amyotrophic lateral sclerosis
803
Amyotrophic lateral sclerosis
357043
Amyotrophic lateral sclerosis
type 4
228113
Anal fistula
98841
Anaplastic large cell lymphoma
251630
Anaplastic oligodendroglioma
142
Anaplastic thyroid carcinoma
142
Anaplastic thyroid carcinoma
93347
Anauxetic dysplasia
37553
Andersen-Tawil syndrome
Aneurysm-osteoarthritis
syndrome
Angel-shaped phalangoepiphyseal dysplasia
Angelman syndrome
72
Angelman syndrome
20 Cases
251671
Angiocentric glioma
80 Cases
2346
Angioosteohypertrophic
syndrome
2
Families
263413
Angiosarcoma
370039
Angora hair nevus
69088
Anhidrotic ectodermal dysplasiaimmunodeficiencyosteopetrosis-lymphedema
syndrome
2 Cases
1069
Aniridia-absent patella syndrome
2 Cases
1065
Aniridia-cerebellar ataxiaintellectual disability syndrome
950
Cases
0.16 I*
Amaurosis-hypertrichosis
syndrome
Amelo-onycho-hypohidrotic
syndrome
314422
284984
Disease
or Group of diseases
72
200
Cases
Alpha-thalassemia-intellectual
disability syndrome linked to
chromosome 16
Alpha-thalassemiamyelodysplastic syndrome
Alport syndrome-intellectual
disability-midface hypoplasiaelliptocytosis syndrome
ORPHACod
e
63442
0.1 P*
Alpha-thalassemia-X-linked
intellectual disability syndrome
64
1021
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
400
Cases
40 Cases
1068
17 Cases
1067
1.0 P*
27 Cases
2.2 I*
1064
1074
5.2 P*
2206
1.35 I
Anisakiasis
Annular atrophic lichen planus
18.3 P*
281139
Annular epidermolytic ichthyosis
2.0 P*
675
Annular pancreas
0.09 I*
69125
0.17 I*
1094
0.1 P*
90390
10 Cases
Anonychia with flexural
pigmentation
Anonychia-microcephaly
syndrome
Anonychia-onychodystrophy
syndrome
1104
Anophthalmia plus syndrome
1101
Anophthalmia-megalocorneacardiopathy-skeletal anomalies
syndrome
0.1 I*
7.5 P
1.3 BP*
52 Cases
0.8 BP*
0.02
2 Cases
2 Cases
3 Cases
22
Families
2 Cases
3 Cases
2 Cases
0.32 I
Ankyloblepharon filiforme
adnatum-imperforate anus
syndrome
Ankylosing vertebral
hyperostosis with tylosis
254411
70 Cases
20 Cases
Aniridia-intellectual disability
syndrome
Aniridia-ptosis-intellectual
disability-familial obesity
syndrome
Aniridia-renal agenesispsychomotor retardation
syndrome
1070
3.85 P
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
45 Cases
3
Families
8 Cases
10 Cases
7
Families
1.8 BP*
3 Cases
4 Cases
14 Cases
17 Cases
3 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
9
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Anophthalmia/microphthalmia30 Cases
77298
esophageal atresia syndrome
0.028 BP*
93976
Anotia
2987
562559
375
375
454710
Antisynthetase syndrome
1457
Aorta coarctation
1110
Aortic arch anomaly-facial
dysmorphism-intellectual
disability syndrome
2299
3400
Aortic arch interruption
178345
Aromatase excess syndrome
35708
Aromatic L-amino acid
decarboxylase deficiency
1135
7 Cases
247
0.08 I*
1682
3342
1113
324540
1037
3.5 P
1150
35.6 BP*
4 Cases
53696
3200
0.3 BP*
130
Cases
Aorto-ventricular tunnel
Aphalangy-hemivertebraeurogenital-intestinal dysgenesis
syndrome
Aphalangy-syndactylymicrocephaly syndrome
Aphonia-deafness-retinal
dystrophy-bifid hallucesintellectual disability syndrome
1114
Aplasia cutis congenita
1116
Aplasia cutis congenita-intestinal
lymphangiectasia syndrome
1117
99981
1485
425
1126
1129
1130
3 Cases
2697
5 Cases
2 Cases
10.0 BP
3 Cases
4 Cases
Aplasia cutis-myopia syndrome
Apnea of prematurity
8.5 P*
30
Families
Apolipoprotein A-I deficiency
Aprosencephaly cerebellar
dysgenesis
Arachnodactyly-abnormal
ossification-intellectual disability
syndrome
Arachnodactyly-intellectual
disability-dysmorphism
syndrome
23
Argininosuccinic aciduria
91
Aromatase deficiency
4 Cases
20.0 P
4 Cases
102
Cases
Arterial tortuosity syndrome
50 Cases
1144
1112
Arrhinia-choanal atresiamicrophthalmia syndrome
Arrhythmogenic right ventricular
cardiomyopathy
Arterial dissection-lentiginosis
syndrome
140
Cases
0.2 P*
Anti-p200 pemphigoid
81
Disease
or Group of diseases
11 Cases
Antecubital pterygium syndrome
Anterior maxillary protrusionstrabismus-intellectual disability
syndrome
Anti-glomerular basement
membrane disease
Anti-glomerular basement
membrane disease
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
30 Cases
2 Cases
5 Cases
3 Cases
65720
Arthrogryposis-severe scoliosis
syndrome
1253
Ascher syndrome
137686
Asherman syndrome
85175
Astley-Kendall dysplasia
251679
Astroblastoma
94
Astrocytoma
94
Astrocytoma
96
Ataxia with vitamin E deficiency
1188
370022
459033
1.0 P*
38 Cases
Arthrogryposis multiplex
congenita
Arthrogryposis multiplex
congenita-whistling face
syndrome
Arthrogryposis-anterior horn cell
disease syndrome
Arthrogryposis-ectodermal
dysplasia syndrome
Arthrogryposis-hyperkeratosis
syndrome, lethal form
Arthrogryposis-like hand
anomaly-sensorineural deafness
syndrome
Arthrogryposis-renal
dysfunction-cholestasis
syndrome
1184
Ataxia-deafness-intellectual
disability syndrome
Ataxia-intellectual disabilityoculomotor apraxia-cerebellar
cysts syndrome
Ataxia-oculomotor apraxia type
4
Ataxia-photosensitivity-short
stature syndrome
5.7 BP*
10 Cases
15 Cases
2 Cases
2 Cases
1 Family
100
Cases
2
Families
50 Cases
44.0 P*
5 Cases
0.02 I*
4.8 I*
2.5 P*
0.33 P*
8 Cases
7 Cases
12 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
10
ORPHACod
e
Disease
or Group of diseases
100
Ataxia-telangiectasia
56304
Atelosteogenesis type II
56305
Atelosteogenesis type III
69739
1192
Athyreosis
1193
Atkin-Flaitz syndrome
163934
Atopic keratoconjunctivitis
1201
Atresia of small intestine
1352
Attenuated Chédiak-Higashi
syndrome
544628
Atypical Fanconi syndromeneonatal hyperinsulinism
syndrome
314466
Atypical Meigs syndrome
1456
Atypical coarctation of aorta
314721
Atypical dentin dysplasia due to
SMOC2 deficiency
289863
Atypical glycine encephalopathy
238523
Atypical hemolytic uremic
syndrome
Atypical hypotonia-cystinuria
syndrome
391411
Atypical juvenile parkinsonism
86797
Atypical lichen myxedematosus
542585
77300
137888
114
25 Cases
13 Cases
2 Cases
3.5 P*
Auditory neuropathy-optic
atrophy syndrome
Auricular abnormalities-cleft lip
with or without cleft palateocular abnormalities syndrome
Auriculocondylar syndrome
Auriculoosteodysplasia
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Autism spectrum disorder due to
60 Cases
352490
AUTS2 deficiency
Autism spectrum disorder8 Cases
370943
epilepsy-arthrogryposis
syndrome
Autism-epilepsy syndrome due
5
308410
to branched chain ketoacid
Families
dehydrogenase kinase deficiency
Autism-facial port-wine stain
4 Cases
137911
syndrome
170
Autoerythrocyte sensitization
324636
Cases
syndrome
14 Cases
420789
15.0 P*
391487
9.0 BP*
Atrial septal defectatrioventricular conduction
defects syndrome
Atrioventricular defectblepharophimosis-radial and
anal defect syndrome
352723
2134
25 Cases
Athabaskan brainstem
dysgenesis syndrome
Atherosclerosis-deafnessdiabetes-epilepsy-nephropathy
syndrome
95713
1479
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.49 P*
Autoimmune encephalopathy
with parasomnia and obstructive
sleep apnea
Autoimmune enteropathy and
endocrinopathy-susceptibility to
chronic infections syndrome
98375
Autoimmune hemolytic anemia
2 Cases
444463
Autoimmune hemolytic anemiaautoimmune thrombocytopeniaprimary immunodeficiency
syndrome
100
Cases
2137
Autoimmune hepatitis
2137
Autoimmune hepatitis
2137
Autoimmune hepatitis
444092
Autoimmune interstitial lung
disease-arthritis syndrome
3261
Autoimmune
lymphoproliferative syndrome
11 Cases
7 Cases
9 Cases
0.17 BP*
4 Cases
20 Cases
436159
1.0 P*
2 Cases
275517
6
Families
747
20 Cases
324530
8 Cases
329173
Autoimmune
lymphoproliferative syndrome
due to CTLA4 haploinsuffiency
Autoimmune
lymphoproliferative syndrome
with recurrent viral infections
Autoimmune pulmonary alveolar
proteinosis
Autoinflammation-PLCG2associated antibody deficiencyimmune dysregulation
Autoinflammatory syndrome
with pyogenic bacterial infection
and amylopectinosis
2 Cases
33110
Autosomal agammaglobulinemia
487814
Autosomal dominant CharcotMarie-Tooth disease type 2 due
to DGAT2 mutation
50 Cases
2
Families
10 Cases
5 Cases
2.02 I*
6 Cases
1.2 I
0.75 I*
23.5 P
5
Families
500
Cases
17 Cases
1 Family
2.66 P
2 Cases
5 Cases
100
Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
11
ORPHACod
e
435819
401964
99946
99938
521414
99940
99941
99944
99945
228179
228174
329258
397735
447964
488333
435387
466768
3107
209335
314399
99
99
314404
363447
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Autosomal dominant CharcotMarie-Tooth disease type 2 due
to TFG mutation
Autosomal dominant CharcotMarie-Tooth disease type 2 with
giant axons
Autosomal dominant CharcotMarie-Tooth disease type 2A1
Autosomal dominant CharcotMarie-Tooth disease type 2D
Autosomal dominant CharcotMarie-Tooth disease type 2DD
2 Cases
2
Families
1 Family
51 Cases
Autosomal dominant CharcotMarie-Tooth disease type 2G
Autosomal dominant CharcotMarie-Tooth disease type 2K
Autosomal dominant CharcotMarie-Tooth disease type 2L
Autosomal dominant CharcotMarie-Tooth disease type 2M
Autosomal dominant CharcotMarie-Tooth disease type 2N
Autosomal dominant CharcotMarie-Tooth disease type 2Q
Autosomal dominant CharcotMarie-Tooth disease type 2U
Autosomal dominant CharcotMarie-Tooth disease type 2V
Autosomal dominant CharcotMarie-Tooth disease type 2W
Autosomal dominant CharcotMarie-Tooth disease type 2Y
Autosomal dominant CharcotMarie-Tooth disease type 2Z
Autosomal dominant cutis laxa
79499
Autosomal dominant deafnessonychodystrophy syndrome
329466
402003
2314
5
Families
1810
1 Family
89937
30 Cases
457193
1 Family
20 Cases
28 Cases
100043
100044
8 Cases
2 Cases
21 Cases
100045
100046
24 Cases
7 Cases
21 Cases
93114
352670
100
Cases
Autosomal dominant Robinow
syndrome
90348
476093
44 Cases
Autosomal dominant CharcotMarie-Tooth disease type 2F
Autosomal dominant adult-onset
proximal spinal muscular atrophy
Autosomal dominant aplasia and
myelodysplasia
Autosomal dominant cerebellar
ataxia
Autosomal dominant cerebellar
ataxia
Autosomal dominant cerebellar
ataxia-deafness-narcolepsy
syndrome
Autosomal dominant childhoodonset proximal spinal muscular
atrophy
ORPHACod
e
324585
0.1 P*
6 Cases
Autosomal dominant distal
axonal motor neuropathymyofibrillar myopathy syndrome
Autosomal dominant focal
dystonia, DYT25 type
Autosomal dominant focal nonepidermolytic palmoplantar
keratoderma with plantar
blistering
Autosomal dominant hyper-IgE
syndrome
Autosomal dominant
hypohidrotic ectodermal
dysplasia
Autosomal dominant
hypophosphatemic rickets
Autosomal dominant intellectual
disability-craniofacial anomaliescardiac defects syndrome
Autosomal dominant
intermediate Charcot-MarieTooth disease type A
Autosomal dominant
intermediate Charcot-MarieTooth disease type B
Autosomal dominant
intermediate Charcot-MarieTooth disease type C
Autosomal dominant
intermediate Charcot-MarieTooth disease type D
Autosomal dominant
intermediate Charcot-MarieTooth disease type E
Autosomal dominant
intermediate Charcot-MarieTooth disease type F
Autosomal dominant
intermediate Charcot-MarieTooth disease with neuropathic
pain
266
Autosomal dominant limb-girdle
muscular dystrophy type 1A
238755
Autosomal dominant limb-girdle
muscular dystrophy type 1H
140957
Autosomal dominant
macrothrombocytopenia
2.7 P
5.6 P*
24 Cases
97 Cases
Disease
or Group of diseases
319581
50 Cases
319589
22 Cases
Autosomal dominant mendelian
susceptibility to mycobacterial
diseases due to partial
IFNgammaR1 deficiency
Autosomal dominant mendelian
susceptibility to mycobacterial
diseases due to partial
IFNgammaR2 deficiency
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
8 Cases
28 Cases
21 Cases
0.1 I*
40 Cases
100
Cases
76 Cases
20 Cases
37 Cases
35 Cases
12 Cases
21 Cases
8 Cases
9 Cases
4
Families
11 Cases
100
Cases
68 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
12
ORPHACod
e
457050
65743
99846
440354
329211
Disease
or Group of diseases
Autosomal dominant
mitochondrial myopathy with
exercise intolerance
Autosomal dominant multiple
pterygium syndrome
98672
Autosomal dominant optic
atrophy
67036
Autosomal dominant optic
atrophy and cataract
2783
1010
730
88924
1300
476119
34528
88659
314889
209867
140481
251282
4 Cases
2
Families
Autosomal dominant myopiamidfacial retrusion-sensorineural
hearing loss-rhizomelic dysplasia
syndrome
Autosomal dominant
neovascular inflammatory
vitreoretinopathy
98784
98673
15 Cases
Autosomal dominant
myoglobinuria
Autosomal dominant nocturnal
frontal lobe epilepsy
1215
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Autosomal dominant optic
atrophy plus syndrome
Autosomal dominant optic
atrophy, classic form
Autosomal dominant
osteopetrosis type 1
Autosomal dominant
palmoplantar keratoderma and
congenital alopecia
Autosomal dominant polycystic
kidney disease
Autosomal dominant polycystic
kidney disease type 1 with
tuberous sclerosis
Autosomal dominant popliteal
pterygium syndrome
Autosomal dominant preaxial
polydactyly-upperback
hypertrichosis syndrome
Autosomal dominant primary
hypomagnesemia with
hypocalciuria
Autosomal dominant progressive
nephropathy with hypertension
Autosomal dominant proximal
renal tubular acidosis
Autosomal dominant
rhegmatogenous retinal
detachment
Autosomal dominant slowed
nerve conduction velocity
Autosomal dominant spastic
ataxia type 1
ORPHACod
e
Disease
or Group of diseases
100991
Autosomal dominant spastic
paraplegia type 10
100993
100994
100998
1 Family
100999
99 Cases
101009
100
Families
320365
3.3 P
171612
171617
3
Families
320355
Autosomal dominant spastic
paraplegia type 12
Autosomal dominant spastic
paraplegia type 13
2.0 P
100988
Autosomal dominant spastic
paraplegia type 6
444099
Autosomal dominant spastic
paraplegia type 73
100989
Autosomal dominant spastic
paraplegia type 8
447753
Autosomal dominant spastic
paraplegia type 9A
447757
Autosomal dominant spastic
paraplegia type 9B
39.6 P*
10 Cases
20
Families
Autosomal dominant spastic
paraplegia type 19
Autosomal dominant spastic
paraplegia type 29
Autosomal dominant spastic
paraplegia type 36
Autosomal dominant spastic
paraplegia type 37
Autosomal dominant spastic
paraplegia type 38
Autosomal dominant spastic
paraplegia type 41
Autosomal dominant spastic
paraplegia type 42
171863
10 Cases
27 Cases
Autosomal dominant spastic
paraplegia type 17
0.4 P*
33 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
10
Families
1 Family
1 Family
1 Family
13 Cases
1 Family
7 Cases
1 Family
10
Families
1 Family
10
Families
2
Families
30 Cases
200
Cases
1 Family
228169
466806
28 Cases
3086
14 Cases
79278
1 Family
79278
38 Cases
1 Family
53 Cases
466775
Autosomal dominant striatal
neurodegeneration
Autosomal dominant
thrombocytopenia with platelet
secretion defect
Autosomal dominant
vitreoretinochoroidopathy
Autosomal erythropoietic
protoporphyria
Autosomal erythropoietic
protoporphyria
Autosomal recessive CharcotMarie-Tooth disease type 2X
1507
Autosomal recessive Robinow
syndrome
250984
Autosomal recessive Stickler
syndrome
1027
Autosomal recessive amelia
3
Families
11 Cases
4
Families
3 Cases
0.012 I*
0.92 P*
29 Cases
100
Cases
15 Cases
3 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
13
ORPHACod
e
Disease
or Group of diseases
Autosomal recessive anterior
segment dysgenesis
Autosomal recessive ataxia due
247815
to PEX10 deficiency
Autosomal recessive ataxia due
139485
to ubiquinone deficiency
Autosomal recessive ataxia,
88644
Beauce type
Autosomal recessive axonal
521411 Charcot-Marie-Tooth disease due
to copper metabolism defect
519388
324442
139455
448242
1172
1172
453521
412057
352641
404499
404493
95434
363429
363969
506353
363432
324262
281097
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
8 Cases
6 Cases
31 Cases
57 Cases
2 Cases
33
Families
Autosomal recessive axonal
neuropathy with neuromyotonia
Autosomal recessive
bestrophinopathy
Autosomal recessive
brachyolmia
Autosomal recessive cerebellar
ataxia
Autosomal recessive cerebellar
ataxia
Autosomal recessive cerebellar
ataxia due to CWF19L1
deficiency
20 Cases
20 Cases
3.3 P
3.6 P*
2 Cases
10
Families
Autosomal recessive cerebellar
ataxia due to STUB1 deficiency
Autosomal recessive cerebellar
ataxia with late-onset spasticity
Autosomal recessive cerebellar
ataxia-epilepsy-intellectual
disability syndrome due to
RUBCN deficiency
Autosomal recessive cerebellar
ataxia-epilepsy-intellectual
disability syndrome due to TUD
deficiency
Autosomal recessive cerebellar
ataxia-movement disorder
syndrome
Autosomal recessive cerebellar
ataxia-pyramidal signsnystagmus-oculomotor apraxia
syndrome
Autosomal recessive cerebral
atrophy
Autosomal recessive complex
spastic paraplegia due to
Kennedy pathway dysfunction
Autosomal recessive congenital
cerebellar ataxia due to GRID2
deficiency
Autosomal recessive congenital
cerebellar ataxia due to MGLUR1
deficiency
Autosomal recessive congenital
ichthyosis
10 Cases
2 Cases
3 Cases
1 Family
17 Cases
4 Cases
4 Cases
7 Cases
10 Cases
0.5 P*
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Autosomal recessive cutis laxa
60 Cases
90349
type 1
Autosomal recessive cutis laxa
40 Cases
90350
type 2
Autosomal recessive dopa50 Cases
101150
responsive dystonia
Autosomal recessive
26 Cases
1974
faciodigitogenital syndrome
Autosomal recessive
7 Cases
329329
frontotemporal pachygyria
Autosomal recessive generalized
19 Cases
89838
epidermolysis bullosa simplex
Autosomal recessive infantile
12 Cases
300547
hypercalcemia
Autosomal recessive
8
217055
intermediate Charcot-MarieFamilies
Tooth disease type A
Autosomal recessive
1 Case
254334
intermediate Charcot-MarieTooth disease type B
Autosomal recessive
3 Cases
369867
intermediate Charcot-MarieTooth disease type C
Autosomal recessive
4 Cases
435998
intermediate Charcot-MarieTooth disease type D
Autosomal recessive isolated
5 Cases
98676
optic atrophy
Autosomal recessive lethal
13 Cases
538096
neonatal axonal sensorimotor
polyneuropathy
Autosomal recessive
leukoencephalopathy-ischemic
3 Cases
314572
stroke-retinitis pigmentosa
syndrome
Autosomal recessive lower
5 Cases
206580
motor neuron disease with
childhood onset
Autosomal recessive malignant
0.75 BP*
667
osteopetrosis
Autosomal recessive mendelian
susceptibility to mycobacterial
7 Cases
477857
diseases due to complete
RORgamma receptor deficiency
Autosomal recessive mendelian
susceptibility to mycobacterial
18 Cases
319569
diseases due to partial
IFNgammaR1 deficiency
Autosomal recessive mendelian
susceptibility to mycobacterial
6 Cases
319574
diseases due to partial
IFNgammaR2 deficiency
Autosomal recessive multiple
64 Cases
2990
pterygium syndrome
Autosomal recessive myogenic
1 Family
319332
arthrogryposis multiplex
congenita
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
14
ORPHACod
e
280654
93329
227976
1366
437552
420702
420699
331176
423384
314603
254343
100995
100996
209951
101000
101001
101003
101004
101005
101006
101007
101008
171622
Disease
or Group of diseases
Autosomal recessive nail
dysplasia
Autosomal recessive
omodysplasia
Autosomal recessive optic
atrophy, OPA7 type
Autosomal recessive
palmoplantar keratoderma and
congenital alopecia
Autosomal recessive primary
immunodeficiency with defective
spontaneous natural killer cell
cytotoxicity
Autosomal recessive severe
congenital neutropenia due to
CSF3R deficiency
Autosomal recessive severe
congenital neutropenia due to
CXCR2 deficiency
Autosomal recessive severe
congenital neutropenia due to
G6PC3 deficiency
Autosomal recessive severe
congenital neutropenia due to
JAGN1 deficiency
Autosomal recessive spastic
ataxia with leukoencephalopathy
Autosomal recessive spastic
ataxia-optic atrophy-dysarthria
syndrome
Autosomal recessive spastic
paraplegia type 14
Autosomal recessive spastic
paraplegia type 15
Autosomal recessive spastic
paraplegia type 18
Autosomal recessive spastic
paraplegia type 20
Autosomal recessive spastic
paraplegia type 21
Autosomal recessive spastic
paraplegia type 23
Autosomal recessive spastic
paraplegia type 24
Autosomal recessive spastic
paraplegia type 25
Autosomal recessive spastic
paraplegia type 26
Autosomal recessive spastic
paraplegia type 27
Autosomal recessive spastic
paraplegia type 28
Autosomal recessive spastic
paraplegia type 32
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4 Cases
ORPHACod
e
Disease
or Group of diseases
171629
Autosomal recessive spastic
paraplegia type 35
139480
Autosomal recessive spastic
paraplegia type 39
23 Cases
17 Cases
320370
8 Cases
320401
3 Cases
320396
320391
4 Cases
306511
Autosomal recessive spastic
paraplegia type 43
Autosomal recessive spastic
paraplegia type 44
Autosomal recessive spastic
paraplegia type 45
Autosomal recessive spastic
paraplegia type 46
Autosomal recessive spastic
paraplegia type 48
Autosomal recessive spastic
paraplegia type 53
2 Cases
319199
57 Cases
320380
Autosomal recessive spastic
paraplegia type 54
320375
Autosomal recessive spastic
paraplegia type 55
320411
Autosomal recessive spastic
paraplegia type 56
14 Cases
54 Cases
431329
6 Cases
401795
1 Family
401800
10
Families
401780
9 Cases
401785
36 Cases
401805
35 Cases
401810
5
Families
401815
401820
1 Family
401830
1 Family
401835
10
Families
401840
10 Cases
468661
7 Cases
459056
1 Family
488594
Autosomal recessive spastic
paraplegia type 57
Autosomal recessive spastic
paraplegia type 59
Autosomal recessive spastic
paraplegia type 60
Autosomal recessive spastic
paraplegia type 61
Autosomal recessive spastic
paraplegia type 62
Autosomal recessive spastic
paraplegia type 63
Autosomal recessive spastic
paraplegia type 64
Autosomal recessive spastic
paraplegia type 66
Autosomal recessive spastic
paraplegia type 67
Autosomal recessive spastic
paraplegia type 69
Autosomal recessive spastic
paraplegia type 70
Autosomal recessive spastic
paraplegia type 71
Autosomal recessive spastic
paraplegia type 74
Autosomal recessive spastic
paraplegia type 75
Autosomal recessive spastic
paraplegia type 76
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
38 Cases
2
Families
2 Cases
3 Cases
7
Families
5 Cases
2 Cases
9 Cases
6
Families
14 Cases
5
Families
2 Cases
3 Cases
1 Case
4 Cases
7 Cases
2 Cases
4 Cases
2 Cases
2 Cases
2 Cases
4 Cases
1 Case
11 Cases
5 Cases
7
Families
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
15
ORPHACod
e
466722
513436
447760
95433
401979
280365
101010
397946
401849
300345
454836
Disease
or Group of diseases
Autosomal recessive spastic
paraplegia type 77
Autosomal recessive spastic
paraplegia type 78
B-cell chronic lymphocytic
leukemia
B-cell immunodeficiency-limb
anomaly-urogenital
malformation syndrome
B-cell non-Hodgkin lymphoma
86852
B-cell prolymphocytic leukemia
536467
B3GALT6-related
spondylodysplastic Ehlers-Danlos
syndrome
79332
B4GALT1-CDG
75496
B4GALT7-related
spondylodysplastic Ehlers-Danlos
syndrome
464336
BENTA disease
BICD2-related autosomal
363454
dominant childhood-onset
proximal spinal muscular atrophy
BNAR syndrome
85284
BRESEK syndrome
476084
183713
5 Cases
BVES-related limb-girdle
muscular dystrophy
Bacterial susceptibility due to
TLR signaling pathway deficiency
3 Cases
24 Cases
3.0 P
Bacterial toxic-shock syndrome
352577
Bainbridge-Ropers syndrome
7 Cases
1225
Baller-Gerold syndrome
3
Families
1226
Bamforth-Lazarus syndrome
1227
Bangstad syndrome
1228
Banki syndrome
2995
Baraitser-Winter
cerebrofrontofacial syndrome
1231
Barber-Say syndrome
110
Bardet-Biedl syndrome
111
Barth syndrome
1234
Bartsocas-Papas syndrome
112
Bartter syndrome
464738
Basel-Vanagaite-Smirin-Yosef
syndrome
100976
Bathing suit ichthyosis
166113
Bazex syndrome
145
Cases
113
Bazex-Dupré-Christol syndrome
143
Cases
98895
Becker muscular dystrophy
98895
Becker muscular dystrophy
98895
Becker muscular dystrophy
34 Cases
116
Beckwith-Wiedemann syndrome
8 Cases
1237
Beemer-Ertbruggen syndrome
60 Cases
1241
Bencze syndrome
14 Cases
7
Families
826
Cases
Avian influenza
Aymé-Gripp syndrome
217266
36234
19 Cases
Autosomal systemic lupus
erythematosus
1272
Disease
or Group of diseases
4 Cases
Autosomal spastic paraplegia
type 58
Autosomal spastic paraplegia
type 72
Axial spondylometaphyseal
dysplasia
171915
3
Families
Autosomal spastic paraplegia
type 30
168549
567502
2
Families
Autosomal recessive
spinocerebellar ataxia-blindnessdeafness syndrome
Autosomal recessive
spondylometaphyseal dysplasia,
Mégarbané type
Autosomal semi-dominant
severe lipodystrophic
laminopathy
Axenfeld-Rieger syndrome
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
9
Families
7 Cases
Autosomal recessive spastic
paraplegia type 9B
782
67038
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
8 Cases
77 Cases
40 Cases
8 Cases
2 Cases
1 Family
60 Cases
16 Cases
0.5 BP*
0.22 P*
0.5 P*
13 Cases
18 Cases
48.0 P*
24 Cases
0.1 I*
22 Cases
20 Cases
10 Cases
17.45 I*
0.05 I*
41
Families
1 Case
2.0 P*
1.53 P
2.2 BP*
3.5 BP*
2 Cases
2
Families
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
16
ORPHACod
e
324581
251287
1949
140927
166308
166305
209973
1179
71518
252164
274
Disease
or Group of diseases
Benign Samaritan congenital
myopathy
Benign concentric annular
macular dystrophy
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4 Cases
27 Cases
100
Families
Benign familial neonatal epilepsy
10
Families
Benign familial neonatal-infantile
seizures
Benign infantile focal epilepsy
with midline spikes and waves
during sleep
Benign infantile seizures
associated with mild
gastroenteritis
Benign nocturnal alternating
hemiplegia of childhood
Benign paroxysmal tonic upgaze
of childhood with ataxia
Disease
or Group of diseases
179
Birdshot chorioretinopathy
122
Birt-Hogg-Dubé syndrome
123
Björnstad syndrome
124
Blackfan-Diamond anemia
93930
Bladder exstrophy
36 Cases
73271
100
Cases
420566
36355
12 Cases
150
Cases
Blepharo-cheilo-odontic
syndrome
1252
Blepharonasofacial malformation
syndrome
293642
6.0 P*
100
Cases
Bernard-Soulier syndrome
2728
3047
118
1035
329284
119
Beta-mannosidosis
Beta-mercaptolactate cysteine
disulfiduria
Beta-propeller proteinassociated neurodegeneration
Beta-sarcoglycan-related limbgirdle muscular dystrophy R4
848
Beta-thalassemia
848
Beta-thalassemia
65287
69736
140963
0.14 BP*
1 Case
68 Cases
0.1 P*
424982
Biliary cystadenocarcinoma
79241
Biotinidase deficiency
79241
Biotinidase deficiency
364198
Bipartite talus
50945
33 Cases
0.67 BP*
3.05 BP
20 Cases
3 Cases
14 Cases
18
Families
3
Families
Blepharophimosis-intellectual
disability syndrome
Blepharophimosis-intellectual
disability syndrome, Ohdo type
58 Cases
30 Cases
122
Cases
Blepharophimosis-intellectual
disability syndrome, SBBYS type
Blepharophimosis-ptosisesotropia-syndactyly-short
stature syndrome
Blepharoptosis-myopia-ectopia
lentis syndrome
Blindness-scoliosisarachnodactyly syndrome
Blomstrand lethal
chondrodysplasia
6 Cases
3 Cases
4 Cases
13 Cases
10.0 I*
125
Bloom syndrome
16
Blue cone monochromatism
16
Blue cone monochromatism
1059
Blue rubber bleb nevus
217008
Bockenheimer syndrome
91135
Body skin hyperlaxity due to
vitamin K-dependent coagulation
factor deficiency
97297
Bohring-Opitz syndrome
1842
Bone dysplasia, lethal Holmgren
type
300
Cases
5 Cases
62 Cases
3
Families
Bilateral microtia-deafness-cleft
palate syndrome
Bilateral striopallidodentate
calcinosis
1259
171844
1.0 I
Beta-ureidopropionase
deficiency
Bilateral acute depigmentation
of the iris
1980
2057
0.5 P*
Bleeding diathesis due to a
collagen receptor defect
Bleeding disorder due to CalDAGGEFI deficiency
Bleeding disorder due to P2Y12
defect
1997
12 Cases
Benign paroxysmal torticollis of
infancy
Benign schwannoma
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.35 P
200
Cases
0.002 I*
1.6 BP
1.6 P*
23 Cases
1.0 BP
1.0 P
200
Cases
40 Cases
11 Cases
46 Cases
7 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
17
ORPHACod
e
Disease
or Group of diseases
223727
Bone sarcoma
223727
Bone sarcoma
1261
Bonnemann-Meinecke-Reich
syndrome
1263
Boomerang dysplasia
127
Borjeson-Forssman-Lehmann
syndrome
69737
Bosley-Salih-Alorainy syndrome
1267
Botulism
1270
Bowen-Conradi syndrome
93382
Brachydactyly type A6
93397
Brachydactyly type A7
1276
Brachydactyly-arterial
hypertension syndrome
1275
2946
1277
1246
1278
166035
Brachydactyly-elbow wrist
dysplasia syndrome
Brachydactyly-long thumb
syndrome
Brachydactyly-mesomeliaintellectual disability-heart
defects syndrome
Brachydactyly-nystagmuscerebellar ataxia syndrome
Brachydactyly-preaxial hallux
varus syndrome
Brachydactyly-short statureretinitis pigmentosa syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.8 I*
168598
9.29 P*
4 Cases
10 Cases
16 Cases
2 Cases
33 Cases
7 Cases
1297
Branchio-oculo-facial syndrome
150
Cases
1 Family
50815
10
Families
1299
Branchiogenic deafness
syndrome
Branchioskeletogenital
syndrome
90354
Brittle cornea syndrome
70589
Bronchopulmonary dysplasia
79493
Brooke-Spiegler syndrome
1304
Brucellosis
1 Family
2771
Bruck syndrome
8 Cases
130
Brugada syndrome
12 Cases
131
Budd-Chiari syndrome
2
Families
131
Budd-Chiari syndrome
131
Budd-Chiari syndrome
36258
Buerger disease
36258
Buerger disease
280785
Bullous diffuse cutaneous
mastocytosis
703
Bullous pemphigoid
2 Cases
543
Burkitt lymphoma
2 Cases
1200
Burn-McKeown syndrome
1306
Buschke-Ollendorff syndrome
1262
Böök syndrome
4
Families
4 Cases
2 Cases
Brachyolmia
100
Cases
93302
Brachyolmia, Maroteaux type
4
Families
1295
Brachytelephalangydysmorphism-Kallmann
syndrome
Brain calcification, Rajab type
8 Cases
60 Cases
1293
178506
2 Cases
100
Cases
1292
Bradyopsia
500150
Brain demyelination due to
methionine adenosyltransferase
deficiency
Brain dopamine-serotonin
vesicular transport disease
Brain malformation-congenital
heart disease-postaxial
polydactyly syndrome
Brain malformationsmusculoskeletal abnormalitiesfacial dysmorphism-intellectual
disability syndrome
Brain-lung-thyroid syndrome
Brachymorphismonychodysplasia-dysphalangism
syndrome
75374
75389
Disease
or Group of diseases
209905
0.022 I*
Brachydactyly-syndactyly, Zhao
type
Braddock syndrome
352649
50 Cases
93409
52047
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
9 Cases
5 Cases
8 Cases
5 Cases
7 Cases
65 Cases
13.0 P*
100
Cases
0.09 I*
60 Cases
20.0 P*
1.5 P*
1.1 P
0.1 I
16.0 P
10.0 P*
40 Cases
25.0 P*
0.17 I*
20
Families
5.0 I
26 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
18
ORPHACod
e
Disease
or Group of diseases
1308
C syndrome
495844
497623
C11ORF73-related autosomal
recessive hypomyelinating
leukodystrophy
C12ORF65-related combined
oxidative phosphorylation defect
329918
C3 glomerulopathy
135
CACH syndrome
448010
369942
83472
0.15 I*
148
Cases
1 Case
4 Cases
5 Cases
CAMOS syndrome
468684
CCDC115-CDG
CD4+/CD56+ hematodermic
neoplasm
CEBPE-associated
autoinflammationimmunodeficiency-neutrophil
dysfunction syndrome
66631
CEDNIK syndrome
569816
CELSR1-related late-onset
primary lymphedema
138
CHARGE syndrome
138
CHARGE syndrome
CHD3-related developmental
delay-speech delay-intellectual
599082
disability-abnormalities of visionfacial dysmorphism syndrome
139
CHILD syndrome
3474
CHIME syndrome
263463
30 Cases
CADDS
CANOMAD syndrome
566067
6 Cases
CAD-CDG
71279
86870
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.11 P*
CHST3-related skeletal dysplasia
100
Cases
8 Cases
12.0 P*
4 Cases
13 Cases
11 Cases
ORPHACod
e
Disease
or Group of diseases
314629
CLN11 disease
352709
CLN13 disease
228357
CLN9 disease
140944
CLOVES syndrome
163681
397725
CIDEC-related familial partial
lipodystrophy
251383
CK syndrome
168984
CLAPO syndrome
485350
CLCN4-related X-linked
intellectual disability syndrome
284448
CLIPPERS
4 Cases
2 Cases
150
Cases
CNTNAP2-related developmental
and epileptic encephalopathy
COASY protein-associated
neurodegeneration
1458
CODAS syndrome
1466
COFS syndrome
263508
COG1-CDG
435934
COG2-CDG
263501
COG4-CDG
263487
COG5-CDG
464443
COG6-CGD
79333
COG7-CDG
95428
COG8-CDG
363611
CTCF-related
neurodevelopmental disorder
1310
Caffey disease
28 Cases
2 Cases
12 Cases
20 Cases
3 Cases
1 Case
2 Cases
9 Cases
10 Cases
8 Cases
2 Cases
5 Cases
6.5 BP
100
Cases
9.0 P*
267
60 Cases
565909
Calpain-3-related limb-girdle
muscular dystrophy R1
Calpain-3-related limb-girdle
muscular dystrophy D4
Calvarial doughnut lesions-bone
fragility syndrome
60 Cases
85192
8 Cases
1318
Campomelia, Cumming type
2
Families
1319
Camptobrachydactyly
1327
435651
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2 Cases
1 Case
1326
24 Cases
488434
6 Cases
38 Cases
2848
Camptodactyly syndrome,
Guadalajara type 1
Camptodactyly syndrome,
Guadalajara type 2
Camptodactyly syndrome,
Guadalajara type 3
Camptodactyly-arthropathycoxa-vara-pericarditis syndrome
1.0 P*
47 Cases
20 Cases
8 Cases
1 Family
8 Cases
2 Cases
5 Cases
30
Families
50 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
19
ORPHACod
e
1321
1323
85164
1325
1328
141
Disease
or Group of diseases
Cap myopathy
160148
Cap polyposis
137667
Capillary malformationarteriovenous malformation
Carcinoma of esophagus
70482
Carcinoma of esophagus
70482
Carcinoma of esophagus
70482
Carcinoma of esophagus
70482
Carcinoma of esophagus
418945
56044
56044
137628
230851
2872
1340
97292
1345
91130
3238
1358
Disease
or Group of diseases
1359
Carney complex
319340
Carney complex-trismuspseudocamptodactyly syndrome
139411
Carney triad
150
Cases
97286
Carney-Stratakis syndrome
20
Families
156
Carnitine palmitoyl transferase
1A deficiency
228302
Carnitine palmitoyl transferase II
deficiency, myopathic form
228308
Carnitine palmitoyl transferase II
deficiency, neonatal form
228305
Carnitine palmitoyl transferase II
deficiency, severe infantile form
6.67 I*
157
Carnitine palmitoyltransferase II
deficiency
9.8 P
157
7.1 P*
159
12.2
1361
Carnosinase deficiency
0.004 I*
1361
Carnosinase deficiency
12.0 I
53035
Caroli disease
4.37 I*
65759
Carpenter syndrome
9 Cases
65282
Carvajal syndrome
6 Cases
195
Cat-eye syndrome
7 Cases
50839
Cat-scratch disease
3 Cases
4 Cases
Carcinoma of esophagus, salivary
gland type
Carcinoma of gallbladder and
extrahepatic biliary tract
Carcinoma of gallbladder and
extrahepatic biliary tract
Cardiac anomalies-heterotaxy
syndrome
Cardiac-valvular Ehlers-Danlos
syndrome
Cardiocranial syndrome, Pfeiffer
type
17 Cases
300
Cases
1.0 BP
21 Cases
67 Cases
261
Cases
7.0 I
300
Cases
Cardiofaciocutaneous syndrome
Cardiogenic shock
Cardiomyopathy-cataract-hip
spine disease syndrome
Cardiomyopathy-hypotonialactic acidosis syndrome
Cardiospondylocarpofacial
syndrome
Carey-Fineman-Ziter syndrome
3
Families
30 Cases
Camurati-Engelmann disease
Canavan disease
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
160
Cases
ORPHACod
e
Camptodactyly-fibrous tissue
hyperplasia-skeletal dysplasia
syndrome
Camptodactyly-joint
contractures-facial skeletal
defects syndrome
Camptodactyly-tall staturescoliosis-hearing loss syndrome
Camptodactyly-taurinuria
syndrome
171881
70482
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
40.0 P*
9 Cases
2 Cases
5 Cases
Carnitine palmitoyltransferase II
deficiency
Carnitine-acylcarnitine
translocase deficiency
Cataract-aberrant oral frenulagrowth delay syndrome
Cataract-ataxia-deafness
1368
syndrome
Cataract-congenital heart
314993
disease-neural tube defect
syndrome
Cataract-deafness-hypogonadism
1383
syndrome
1373
162
Cataract-glaucoma syndrome
60 Cases
300
Cases
20
Families
30
Families
300
Cases
1.0 P*
60 Cases
24 Cases
0.2 BP
0.1 I
70 Cases
7 Cases
1.35 BP*
6.6 P*
3 Cases
2 Cases
2 Cases
3 Cases
3
Families
20 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
20
ORPHACod
e
436174
1381
1387
1377
1380
3286
Disease
or Group of diseases
Cataract-growth hormone
deficiency-sensory neuropathysensorineural hearing lossskeletal dysplasia syndrome
Cataract-intellectual disabilityanal atresia-urinary defects
syndrome
Cataract-intellectual disabilityhypogonadism syndrome
Cataract-nephropathyencephalopathy syndrome
Catecholaminergic polymorphic
ventricular tachycardia
Catel-Manzke syndrome
1123
Caudal appendage-deafness
syndrome
1459
Celiac disease-epilepsy-cerebral
calcification syndrome
3258
Cenani-Lenz syndrome
98972
Central cloudy dystrophy of
François
178029
Central diabetes insipidus
251870
Central nervous system
calcification-deafness-tubular
acidosis-anemia syndrome
Central nervous system
embryonal tumor
73256
Central neurocytoma
411527
Central retinal vein occlusion
504476
1171
2246
444072
46724
136
Disease
or Group of diseases
1393
Cerebrocostomandibular
syndrome
314679
Cerebrofacioarticular syndrome
3 Cases
1394
Cerebrofaciothoracic dysplasia
20 Cases
66625
Cerebrooculonasal syndrome
8
Families
169079
Cernunnos-XLF deficiency
2218
Cervical hypertrichosisperipheral neuropathy syndrome
46627
Char syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
75 Cases
9 Cases
20 Cases
21 Cases
5 Cases
4 Cases
2 Cases
109
Cases
10.0 P*
33 Cases
65753
2 Cases
101101
170
Cases
228374
30 Cases
24 Cases
4.0 P*
101102
300319
397968
443073
2 Cases
0.07 I*
495274
99955
500
Cases
363981
99954
28.0 P*
Cerebellar ataxia with
neuropathy and bilateral
vestibular areflexia syndrome
Cerebellar ataxia-areflexia-pes
cavus-optic atrophysensorineural hearing loss
syndrome
Cerebellar hypoplasiatapetoretinal degeneration
syndrome
100
Cases
139515
90103
10 Cases
166
Charcot-Marie-Tooth disease
type 1
Charcot-Marie-Tooth disease
type 2B2
Charcot-Marie-Tooth disease
type 2B5
Charcot-Marie-Tooth disease
type 2H
Charcot-Marie-Tooth disease
type 2P
Charcot-Marie-Tooth disease
type 2R
Charcot-Marie-Tooth disease
type 2S
Charcot-Marie-Tooth disease
type 2T
17.5 P
1 Family
4 Cases
13 Cases
18 Cases
1 Case
35 Cases
10 Cases
11
Families
Charcot-Marie-Tooth disease
type 4B1
Charcot-Marie-Tooth disease
type 4B3
Charcot-Marie-Tooth disease
type 4H
Charcot-Marie-Tooth disease
type 4J
Charcot-Marie-Tooth diseasedeafness-intellectual disability
syndrome
Charcot-Marie-Tooth
disease/Hereditary motor and
sensory neuropathy
3 Cases
15 Cases
18 Cases
7 Cases
25.0 P*
4 Cases
3 Cases
1406
Charlie M syndrome
3
Families
1221
Cheilitis glandularis
100
Cases
6.0 P*
184
Cherubism
300
Cases
3.0 P*
324625
Chikungunya
90280
Chilblain lupus
Cerebellar-facial-dental
syndrome
Cerebral arteriovenous
malformation
Cerebral autosomal dominant
arteriopathy-subcortical infarctsleukoencephalopathy
ORPHACod
e
3 Cases
Cataract-microcornea syndrome
1388
3240
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.12 I*
70 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
21
ORPHACod
e
Disease
or Group of diseases
209908
Childhood apraxia of speech
168782 Childhood disintegrative disorder
293955
363677
497906
494541
500180
466921
401866
Choanal atresia
589856
Choanal atresia-atheliahypothyroidism-delayed
puberty-short stature syndrome
70567
Cholangiocarcinoma
70567
Cholangiocarcinoma
70567
Cholangiocarcinoma
1415
79347
280586
1422
319195
2.0 P*
Childhood encephalopathy due
to thiamine pyrophosphokinase
deficiency
Childhood-onset autosomal
recessive myopathy with
external ophthalmoplegia
Childhood-onset basal ganglia
degeneration syndrome
Childhood-onset benign chorea
with striatal involvement
Childhood-onset motor and
cognitive regression syndrome
with extrapyramidal movement
disorder
Childhood-onset progressive
contractures-limb-girdle
weakness-muscle dystrophy
syndrome
Childhood-onset spasticity with
hyperglycinemia
137914
1414
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
22 Cases
5 Cases
Chondromyxoid fibroma
55880
Chondrosarcoma
55880
Chondrosarcoma
251899
Choroid plexus carcinoma
251899
Choroid plexus carcinoma
Disease
or Group of diseases
1433
Choroidal atrophy-alopecia
syndrome
180
Choroideremia
85278
Christianson syndrome
319303
22 Cases
435988
4 Cases
3 Cases
7 Cases
3
Families
1670
468641
Chromophobe renal cell
carcinoma
Chronic atrial and intestinal
dysrhythmia syndrome
Chronic diarrhea with villous
atrophy
Chronic enteropathy associated
with SLCO2A1 gene
379
Chronic granulomatous disease
379
Chronic granulomatous disease
396
Chronic hiccup
314373
3 Cases
2932
8.6 BP*
Chronic infantile diarrhea due to
guanylate cyclase 2C overactivity
Chronic inflammatory
demyelinating polyneuropathy
521
Chronic myeloid leukemia
521
Chronic myeloid leukemia
4.2 I
521
Chronic myeloid leukemia
4.0 I*
98823
2.1 P
86830
18 Cases
Cholestasis-lymphedema
syndrome
Cholestasis-pigmentary
retinopathy-cleft palate
syndrome
Chondrodysplasia punctata,
Toriello type
Chondrodysplasia with joint
dislocations, gPAPP type
Chondrodysplasia-disorder of sex
development syndrome
Chondroectodermal dysplasia
with night blindness
404507
ORPHACod
e
47 Cases
324964
5 Cases
324964
3 Cases
101959
4 Cases
101959
2 Cases
70591
4 Cases
Chronic myelomonocytic
leukemia
Chronic myeloproliferative
disease, unclassifiable
Chronic nonbacterial
osteomyelitis/Chronic recurrent
multifocal osteomyelitis
Chronic nonbacterial
osteomyelitis/Chronic recurrent
multifocal osteomyelitis
Chronic primary adrenal
insufficiency
Chronic primary adrenal
insufficiency
Chronic thromboembolic
pulmonary hypertension
314597
Chudley-McCullough syndrome
71
Chylomicron retention disease
167
Chédiak-Higashi syndrome
50 Cases
0.24 I*
3.55
0.01 I*
69744
0.35
309854
Circumscribed palmoplantar
hypokeratosis
Cirrhosis-dystonia-polycythemiahypermanganesemia syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2 Cases
2.0 P*
30 Cases
0.01 I*
17 Cases
2 Cases
18 Cases
0.46 BP
0.5 BP*
1.0 P*
32 Cases
3.7 P*
1.25 I*
5.63
6.0 P*
0.29 I*
0.53 I*
0.3 P
2.5 I
0.4 I*
14.0 P*
4.2 I*
25 Cases
55 Cases
500
Cases
17 Cases
20 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
22
ORPHACod
e
Disease
or Group of diseases
247525
Citrullinemia type I
600731
Clark-Baraitser syndrome
391
Classic Hodgkin lymphoma
391
Classic Hodgkin lymphoma
98846
98845
98844
98843
90794
90794
315306
315306
315311
Classic Hodgkin lymphoma,
lymphocyte-depleted type
Classic Hodgkin lymphoma,
lymphocyte-rich type
Classic Hodgkin lymphoma,
mixed cellularity type
Classic Hodgkin lymphoma,
nodular sclerosis type
Classic congenital adrenal
hyperplasia due to 21hydroxylase deficiency
Classic congenital adrenal
hyperplasia due to 21hydroxylase deficiency
Classic congenital adrenal
hyperplasia due to 21hydroxylase deficiency, salt
wasting form
Classic congenital adrenal
hyperplasia due to 21hydroxylase deficiency, salt
wasting form
Classic congenital adrenal
hyperplasia due to 21hydroxylase deficiency, simple
virilizing form
79239
Classic galactosemia
58017
Classic hairy cell leukemia
58017
Classic hairy cell leukemia
394
Classic homocystinuria
394
Classic homocystinuria
2584
Classic mycosis fungoides
329977
Classic neuroendocrine tumor of
appendix
287
Classical Ehlers-Danlos syndrome
230839
536532
398971
319276
Classical-like Ehlers-Danlos
syndrome type 1
Classical-like Ehlers-Danlos
syndrome type 2
Clear cell adenocarcinoma of the
ovary
Clear cell renal carcinoma
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2.4 P*
ORPHACod
e
Disease
or Group of diseases
508476
Cleft lip and palate-craniofacial
dysmorphism-congenital heart
defect-hearing loss syndrome
1995
Cleft lip-retinopathy syndrome
199306
Cleft lip/palate
8 Cases
2.463 I*
22.9
2003
0.04 I*
3253
0.1 I*
0.42 I*
2001
1.28 I*
2014
7.0 P*
2013
2016
7.0 BP
2015
2010
7.5 BP*
Cleft palate
1452
Cleidocranial dysplasia
1453
Cleidorhizomelic syndrome
93929
Cloacal exstrophy
93929
Cloacal exstrophy
93267
Cloverleaf skull-multiple
congenital anomalies syndrome
51577
Cobblestone lissencephaly
352682
Cobblestone lissencephaly
without muscular or ocular
involvement
1.65 P*
90068
Cocaine intoxication
0.5 I*
3233
Cochleosaccular degenerationcataract syndrome
191
Cockayne syndrome
191
Cockayne syndrome
192
Coffin-Lowry syndrome
192
Coffin-Lowry syndrome
1465
Coffin-Siris syndrome
2.1 I*
0.29 I*
3.12
0.3 BP
0.25 I
5.0 P
17 Cases
7 Cases
2 Cases
80.0 BP
2 Cases
50 Cases
5 Cases
53.6 BP*
Cleft palate-large ears-small
head syndrome
Cleft palate-lateral synechia
syndrome
Cleft palate-short staturevertebral anomalies syndrome
Cleft palate-stapes fixationoligodontia syndrome
Cleidocranial dysplasia
2.5 P*
7 Cases
Cleft lip/palate-deafness-sacral
lipoma syndrome
Cleft lip/palate-ectodermal
dysplasia syndrome
Cleft lip/palate-intestinal
malrotation-cardiopathy
syndrome
1452
7.5 P*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.32 I*
8 Cases
11 Cases
2 Cases
2 Cases
0.1 P
0.4 BP*
2 Cases
0.75 BP*
0.54 BP
3 Cases
1.0 BP*
6 Cases
1.0 P*
2
Families
0.5 I*
0.2 BP*
1.5 P
1.5 P*
190
Cases
1.99 I*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
23
ORPHACod
e
Disease
or Group of diseases
1467
Cogan syndrome
444077
Cognitive impairment-coarse
facies-heart defects-obesitypulmonary involvement-short
stature-skeletal dysplasia
syndrome
193
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
300
Cases
ORPHACod
e
431149
314689
11 Cases
200
Cases
Cohen syndrome
476113
231154
221139
31824
Colchicine poisoning
157820
Cold-induced sweating syndrome
2050
Cole-Carpenter syndrome
1471
468672
Coloboma of maculabrachydactyly type B syndrome
Colobomatous macrophthalmiamicrocornea syndrome
424099
Colobomatous microphthalmiarhizomelic dysplasia syndrome
435930
Colobomatous optic disc-macular
atrophy-chorioretinopathy
syndrome
1198
Colonic atresia
35909
440727
542301
238505
538958
169090
217390
505227
357329
538963
445018
397964
504530
317428
0.1 P*
Combined deficiency of factor V
and factor VIII
Combined hamartoma of the
retina and retinal pigment
epithelium
Combined immunodeficiency
due to CARMIL2 deficiency
Combined immunodeficiency
due to CD27 deficiency
Combined immunodeficiency
due to CD70 deficiency
Combined immunodeficiency
due to CRAC channel dysfunction
Combined immunodeficiency
due to DOCK8 deficiency
Combined immunodeficiency
due to GINS1 deficiency
Combined immunodeficiency
due to IL21R deficiency
Combined immunodeficiency
due to ITK deficiency
Combined immunodeficiency
due to LRBA deficiency
Combined immunodeficiency
due to MALT1 deficiency
Combined immunodeficiency
due to Moesin deficiency
Combined immunodeficiency
due to ORAI1 deficiency
6 Cases
324535
3 Cases
319514
10 Cases
319519
21 Cases
319524
5
Families
369913
254920
3 Cases
420728
5.0 BP
420733
0.5 P*
444013
120
Cases
444458
21 Cases
447954
18 Cases
477684
6 Cases
477774
10 Cases
478029
11 Cases
478042
5 Cases
565624
6 Cases
254925
13 Cases
254930
23 Cases
319504
3 Cases
319509
7 Cases
309111
6 Cases
280133
Disease
or Group of diseases
Combined immunodeficiency
due to OX40 deficiency
Combined immunodeficiency
due to STK4 deficiency
Combined immunodeficiency
due to TFRC deficiency
Combined immunodeficiency
due to partial RAG1 deficiency
Combined immunodeficiency
with faciooculoskeletal
anomalies
Combined oxidative
phosphorylation defect type 11
Combined oxidative
phosphorylation defect type 13
Combined oxidative
phosphorylation defect type 14
Combined oxidative
phosphorylation defect type 15
Combined oxidative
phosphorylation defect type 17
Combined oxidative
phosphorylation defect type 2
Combined oxidative
phosphorylation defect type 20
Combined oxidative
phosphorylation defect type 21
Combined oxidative
phosphorylation defect type 23
Combined oxidative
phosphorylation defect type 24
Combined oxidative
phosphorylation defect type 25
Combined oxidative
phosphorylation defect type 26
Combined oxidative
phosphorylation defect type 27
Combined oxidative
phosphorylation defect type 29
Combined oxidative
phosphorylation defect type 30
Combined oxidative
phosphorylation defect type 39
Combined oxidative
phosphorylation defect type 4
Combined oxidative
phosphorylation defect type 7
Combined oxidative
phosphorylation defect type 8
Combined oxidative
phosphorylation defect type 9
Combined pancreatic lipasecolipase deficiency
Complement component 3
deficiency
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
1 Case
7 Cases
2
Families
9 Cases
2 Cases
32 Cases
2 Cases
5 Cases
16 Cases
20
Families
1 Case
2 Cases
2 Cases
11 Cases
3 Cases
2 Cases
2 Cases
3 Cases
1 Case
2 Cases
6 Cases
2 Cases
7 Cases
7 Cases
4 Cases
3 Cases
27 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
24
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Complete androgen insensitivity
3.0 I*
99429
syndrome
Complete androgen insensitivity
0.83 P
99429
syndrome
Complete atrioventricular septal
20.0 BP*
1329
defect
15 Cases
98949
Complete cryptophthalmia
457378
306644
268316
90053
458758
168966
3216
3236
209932
Complex lethal
osteochondrodysplasia
Complication after organ
transplantation
Complication in hemodialysis
Complications after
hematopoietic stem cell
transplantation
Composite
hemangioendothelioma
Composite lymphoma
Cone rod dystrophy
221142
Confetti-like macular atrophy
294975
973
Congenital absence of upper arm
and forearm with hand present
Congenital absence/hypoplasia
of fingers excluding thumb,
unilateral
418
Congenital adrenal hyperplasia
418
Congenital adrenal hyperplasia
418
Congenital adrenal hyperplasia
90795
90795
90793
90791
95699
Congenital adrenal hyperplasia
due to 11-beta-hydroxylase
deficiency
Congenital adrenal hyperplasia
due to 11-beta-hydroxylase
deficiency
Congenital adrenal hyperplasia
due to 17-alpha-hydroxylase
deficiency
Congenital adrenal hyperplasia
due to 3-beta-hydroxysteroid
dehydrogenase deficiency
Congenital adrenal hyperplasia
due to cytochrome P450
oxidoreductase deficiency
495879
79
210122
9.0 P*
13.0 I*
86816
Congenital analbuminemia
1195
Congenital atransferrinemia
0.65 P*
538101
0.01 I*
48
79302
8 Cases
79095
3 Cases
514352
45 Cases
71278
2.5 P*
2 Cases
300313
0.62 BP
2
Families
1369
330054
13.35 I*
6.7 BP*
521432
10.0 P*
48431
0.75 BP*
512260
0.47 P*
329242
168612
0.1 P*
Congenital agenesis of the
scrotum
Congenital alpha2-antiplasmin
deficiency
Congenital alveolar capillary
dysplasia
Congenital amegakaryocytic
thrombocytopenia
566192
39 Cases
Disease
or Group of diseases
3319
6 Cases
Conductive deafness-malformed
external ear syndrome
Conductive deafness-ptosisskeletal anomalies syndrome
Cone dystrophy with
supernormal rod response
1872
ORPHACod
e
Congenital autosomal recessive
small-platelet thrombocytopenia
Congenital axonal neuropathy
with encephalopathy
Congenital bilateral absence of
vas deferens
Congenital bile acid synthesis
defect type 3
Congenital bile acid synthesis
defect type 4
Congenital brachyesophagusintrathoracic stomach-vertebral
anomalies syndrome
Congenital brain dysgenesis due
to glutamine synthetase
deficiency
Congenital cataract-hearing losssevere developmental delay
syndrome
Congenital cataract-hypertrophic
cardiomyopathy-mitochondrial
myopathy syndrome
Congenital cataract-progressive
muscular hypotonia-hearing lossdevelopmental delay syndrome
Congenital cataract-severe
neonatal hepatopathy-global
developmental delay syndrome
Congenital cataracts-facial
dysmorphism-neuropathy
syndrome
Congenital cerebellar ataxia due
to RNU12 mutation
Congenital chronic diarrhea with
protein-losing enteropathy
Congenital deficiency in alphafetoprotein
2140
Congenital diaphragmatic hernia
2140
Congenital diaphragmatic hernia
68 Cases
0.75 BP*
137
85
Congenital disorder of
glycosylation
Congenital dyserythropoietic
anemia
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
6 Cases
40 Cases
40 Cases
100
Cases
50 Cases
16 Cases
5 Cases
7 Cases
50.0 P*
2 Cases
5 Cases
8 Cases
3 Cases
5 Cases
40 Cases
3 Cases
2 Cases
170
Cases
6 Cases
2 Cases
22 Cases
30.0 BP
21.2 BP*
1.5 BP*
0.16 BP*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
25
ORPHACod
e
Disease
or Group of diseases
85
Congenital dyserythropoietic
anemia
98870
293825
103910
231573
Congenital dyserythropoietic
anemia type III
Congenital dyserythropoietic
anemia type IV
Congenital enterocyte heparan
sulfate deficiency
Congenital erosive and vesicular
dermatosis
79277
Congenital erythropoietic
porphyria
79277
Congenital erythropoietic
porphyria
325
Congenital factor II deficiency
326
Congenital factor V deficiency
327
Congenital factor VII deficiency
329
Congenital factor XI deficiency
331
Congenital factor XIII deficiency
331
Congenital factor XIII deficiency
335
Congenital fibrinogen deficiency
476406
1023
528
98976
60041
1355
98975
306530
Congenital generalized
hypercontractile muscle stiffness
syndrome
Congenital generalized
hypertrichosis, Ambras type
Congenital generalized
lipodystrophy
Congenital glaucoma
Congenital heart block
Congenital hydrocephalus
442
Congenital hypothyroidism
95715
60 Cases
4 Cases
3 Cases
31 Cases
200
Cases
0.065 I*
0.05 P*
Congenital hypothyroidism due
to developmental anomaly
Congenital hypothyroidism due
to transplacental passage of TSHbinding inhibitory antibodies
ORPHACod
e
Congenital ichthyosis-intellectual
disability-spastic quadriplegia
syndrome
Congenital ichthyosis2271
microcephalus-tetraplegia
syndrome
Congenital infiltrating
583097
lipomatosis of the face
Congenital insensitivity to pain
453510
with severe intellectual disability
Congenital insensitivity to pain88642
anosmia-neuropathic
arthropathy
Congenital insensitivity to pain217399 hyperhidrosis-absence of C-fiber
innervation
Congenital intrauterine infection1229
like syndrome
332
0.33 P*
657
0.1 P*
0.04 I*
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2 Cases
352333
0.1 P*
495875
0.05 P*
1954
0.15 P*
210163
2 Cases
562528
40 Cases
2 Cases
59 Cases
3 Cases
20 Cases
2 Cases
30 Cases
100
Cases
Congenital intrinsic factor
deficiency
Congenital isolated
hyperinsulinism
Congenital labioscrotal agenesiscerebellar malformation-corneal
dystrophy-facial dysmorphism
syndrome
3.67 BP
3 Cases
17 Cases
Congenital lethal erythroderma
Congenital lethal myopathy,
Compton-North type
Congenital limbs-face
contractures-hypotoniadevelopmental delay syndrome
1928
Congenital lobar emphysema
93109
Congenital megacalycosis
4 Cases
14 Cases
4.0 BP
0.5 P*
2.2 BP*
4.54 BP
Congenital heart defect-round
face-developmental delay
syndrome
Congenital hereditary
endothelial dystrophy type I
Congenital hereditary facial
paralysis-variable hearing loss
syndrome
2185
95711
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
740
Cases
69063
3 Cases
391376
68 Cases
157973
13 Cases
98893
46.5 BP*
371007
38.0 BP*
34520
21.3 P*
329178
Congenital membranous
nephropathy due to
fetomaternal anti-neutral
endopeptidase alloimmunization
Congenital microcephaly-severe
encephalopathy-progressive
cerebral atrophy syndrome
Congenital muscular dystrophy
due to LMNA mutation
Congenital muscular dystrophy
type 1B
Congenital muscular dystrophy
with hyperlaxity
Congenital muscular dystrophy
with integrin alpha-7 deficiency
Congenital muscular dystrophy
with intellectual disability and
severe epilepsy
25 Cases
15 Cases
20 Cases
23 Cases
6 Cases
14 Cases
0.03 P*
3 Cases
1.0 P*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
26
ORPHACod
e
1875
486815
590
319160
424107
544602
199329
206973
168486
369852
79394
2772
Disease
or Group of diseases
Congenital muscular dystrophyinfantile cataract-hypogonadism
syndrome
Congenital muscular dystrophyrespiratory failure-skin
abnormalities-joint hyperlaxity
syndrome
Congenital myasthenic syndrome
Congenital myotonia
Congenital neuronal ceroid
lipofuscinosis
Congenital neutropeniamyelofibrosis-nephromegaly
syndrome
Congenital non-bullous
ichthyosiform erythroderma
Congenital osteogenesis
imperfecta-microcephalycataracts syndrome
Congenital pancreatic cyst
139414
Congenital panfollicular nevus
508542
Congenital pseudoarthrosis of
the clavicle
2444
Congenital pulmonary airway
malformation
2414
Congenital pulmonary
lymphangiectasia
3189
Congenital pulmonary valvar
stenosis
3269
Congenital radioulnar synostosis
281190
290
Disease
or Group of diseases
290
Congenital rubella syndrome
4 Cases
369861
0.3 P*
5 Cases
2 Cases
2 Cases
Congenital stromal corneal
dystrophy
35122
Congenital sucrase-isomaltase
deficiency
499009
Congenital syphilis
93583
Congenital thrombotic
thrombocytopenic purpura
99125
Congenital total pulmonary
venous return anomaly
858
Congenital toxoplasmosis
92050
Congenital tufting enteropathy
291
Congenital varicella syndrome
1.0 P
10 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.35 BP*
Congenital short bowel
syndrome
Congenital sideroblastic anemiaB-cell immunodeficiency-periodic
fever-developmental delay
syndrome
101068
2 Cases
16 Cases
43 Cases
16 Cases
6
Families
20.0 P*
1.3 BP*
123
Cases
9.0 BP
33.0 BP*
0.5 BP*
0.3 P*
3 Cases
Congenital vertebral-cardiacrenal anomalies syndrome
Congenitally corrected
216694
transposition of the great
arteries
Congenitally short costocoracoid
2391
ligament
Congenitally uncorrected
860
transposition of the great
arteries
Connective tissue disorder due to
300284
lysyl hydroxylase-3 deficiency
130
Cases
4 Cases
521438
10 Cases
3 Cases
23 Cases
5 Cases
200
Cases
8.2 BP*
39.3 BP*
436003
1484
350
Cases
35 Cases
40 Cases
0.03 I*
420794
319651
100
Cases
Congenital respiratory-biliary
fistula
Congenital reticular
ichthyosiform erythroderma
Congenital rubella syndrome
ORPHACod
e
2301
Congenital primary lymphedema
of Gordon
Congenital progressive bone
marrow failure-B-cell
immunodeficiency-skeletal
dysplasia syndrome
66630
2040
7 Cases
Congenital myopathy with
internal nuclei and atypical cores
Congenital myopathy with
myasthenic-like onset
Congenital myopathy with
reduced type 2 muscle fibers
Congenital myopathy, Paradas
type
313906
569821
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
314002
Cono-spondylar dysplasia
Constitutional megaloblastic
anemia with severe neurologic
disease
Contractures-developmental
delay-Pierre Robin syndrome
Contractures-ectodermal
dysplasia-cleft lip/palate
syndrome
Contractures-webbed neckmicrognathia-hypoplastic nipples
syndrome
1487
Cooks syndrome
1488
Cooper-Jabs syndrome
1490
Corneal dystrophy-perceptive
deafness syndrome
3.0 BP
1 Family
24.25 BP*
2 Cases
3 Cases
6 Cases
6 Cases
2 Cases
2 Cases
12 Cases
2 Cases
24 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
27
ORPHACod
e
Disease
or Group of diseases
352662
Corneal intraepithelial
dyskeratosis-palmoplantar
hyperkeratosis-laryngeal
dyskeratosis syndrome
199
3194
52055
459074
1389
300570
54251
Cornelia de Lange syndrome
Costello syndrome
201
Cowden syndrome
1508
Coxoauricular syndrome
1509
Coxopodopatellar syndrome
1512
Crane-Heise syndrome
Cranio-osteoarthropathy
1513
Craniodiaphyseal dysplasia
1514
Craniodigital-intellectual
disability syndrome
1515
Cranioectodermal dysplasia
85168
Craniofacial conodysplasia
459061
Craniofacial dysplasia-short
stature-ectodermal anomaliesintellectual disability syndrome
1516
1529
363705
1521
19 Cases
1.24 BP*
Corneodermatoosseous
syndrome
Corpus callosum agenesisintellectual disability-colobomamicrognathia syndrome
Corpus callosum agenesismacrocephaly-hypertelorism
syndrome
Cortical blindness-intellectual
disability-polydactyly syndrome
Cortical dysgenesis with
pontocerebellar hypoplasia due
to TUBB3 mutation
Corticosteroid-sensitive aseptic
abscess syndrome
3071
1525
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Craniofacial dyssynostosis
Craniofacial-deafness-hand
syndrome
Craniofaciofrontodigital
syndrome
Craniofrontonasal dysplasiaPoland anomaly syndrome
50814
Craniolenticulosutural dysplasia
85184
Craniometadiaphyseal dysplasia,
wormian bone type
7 Cases
ORPHACod
e
Disease
or Group of diseases
1522
Craniometaphyseal dysplasia
54595
Craniopharyngioma
54595
Craniopharyngioma
157832
Craniorhiny
1531
Craniosynostosis
1541
Craniosynostosis, Boston type
2 Cases
4 Cases
3 Cases
2145
12 Cases
1527
49 Cases
1538
300
Cases
85199
1533
0.5 P*
4 Cases
47 Cases
171839
52054
9 Cases
565858
30 Cases
20 Cases
5 Cases
60 Cases
1 Family
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
160
Cases
1.0 I
2.0 P*
4 Cases
24.3 BP*
3
Families
Craniosynostosis, HerrmannOpitz type
Craniosynostosis, Philadelphia
type
Craniosynostosis-Dandy-Walker
malformation-hydrocephalus
syndrome
Craniosynostosis-anal anomaliesporokeratosis syndrome
Craniosynostosis-fibular aplasia
syndrome
Craniosynostosis-hydrocephalusArnold-Chiari malformation type
I-radioulnar synostosis syndrome
Craniosynostosis-intracranial
calcifications syndrome
Craniosynostosismicroretrognathia-severe
intellectual disability syndrome
1528
Craniotelencephalic dysplasia
205
Crigler-Najjar syndrome
205
Crigler-Najjar syndrome
1545
Crisponi syndrome
1461
Criss-cross heart
2930
Cronkhite-Canada syndrome
2935
Crossed polysyndactyly
207
Crouzon disease
93262
Crouzon syndrome-acanthosis
nigricans syndrome
1546
Cryptococcosis
2 Cases
1 Family
4 Cases
9 Cases
2 Cases
2 Cases
3 Cases
3 Cases
4 Cases
0.1 BP*
1.0 P*
30 Cases
0.8 BP*
8 Cases
500
Cases
14 Cases
3 Cases
4 Cases
2 Cases
28 Cases
4 Cases
468635
1547
Cryptogenic multifocal ulcerous
stenosing enteritis
Cryptomicrotia-brachydactylyexcess fingertip arch syndrome
12 Cases
0.9 BP*
0.1 BP
11.0 I*
60 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
28
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Cryptorchidism-arachnodactyly3 Cases
1548
intellectual disability syndrome
1.96 I*
1549
Cryptosporidiosis
307766
Curly hair-acral keratodermacaries syndrome
1552
Currarino syndrome
1553
Curry-Jones syndrome
96253
Cushing disease
96253
Cushing disease
553
Cushing syndrome
553
Cushing syndrome
553
Cushing syndrome
189427
280779
79140
79140
79140
79140
2881
Cushing syndrome due to
macronodular adrenal
hyperplasia
Cutaneous collagenous
vasculopathy
Cutaneous neuroendocrine
carcinoma
Cutaneous neuroendocrine
carcinoma
Cutaneous neuroendocrine
carcinoma
Cutaneous neuroendocrine
carcinoma
Cutaneous photosensitivitylethal colitis syndrome
451607
Cutaneous pseudolymphoma
1555
Cutis gyrata-acanthosis nigricanscraniosynostosis syndrome
209
Cutis laxa
221145
Cutis laxa with severe
pulmonary, gastrointestinal and
urinary anomalies
171719
Cutis laxa-Marfanoid syndrome
1556
Cutis marmorata telangiectatica
congenita
2686
Cyclic neutropenia
2674
Cyprus facialneuromusculoskeletal syndrome
400
586
Cystic echinococcosis
Cystic fibrosis
14 Cases
1.0 P*
ORPHACod
e
Disease
or Group of diseases
586
Cystic fibrosis
2575
2111
85136
9 Cases
Cystinosis
213
Cystinosis
213
Cystinosis
214
Cystinuria
214
Cystinuria
75381
Cystoid macular dystrophy
137698
Cytomegalovirus disease in
patients with impaired cell
mediated immunity deemed at
risk
94087
Cytophagic histiocytic
panniculitis
477787
Cytosolic phospholipase-A2
alpha deficiency associated
bleeding disorder
2437
Czeizel-Losonci syndrome
356978
D,L-2-hydroxyglutaric aciduria
79315
D-2-hydroxyglutaric aciduria
300536
DDOST-CDG
488647
DDX41-related hematologic
malignancy predisposition
syndrome
21 Cases
79134
DEND syndrome
18 Cases
494444
DIAPH1-related sensorineural
hearing loss-thrombocytopenia
syndrome
300
Cases
404546
DITRA
91131
DK1-CDG
0.2 I*
6.5 P*
5.9 P
0.15 I*
0.08 P*
20 Cases
0.27 I
0.13 I*
4.0 P*
0.86
3 Cases
60 Cases
12 Cases
0.1 BP*
0.1 P*
1 Family
1.0 I*
19.3912 BP*
Cystic fibrosis-gastritismegaloblastic anemia syndrome
Cystic hamartoma of lung and
kidney
Cystic leukoencephalopathy
without megalencephaly
213
4.0 P*
DNA2-related mitochondrial DNA
deletion syndrome
DNAJB2-related Charcot-Marie443950
Tooth disease type 2
352470
34516
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
11.1319 P*
DNAJB6-related limb-girdle
muscular dystrophy D1
2 Cases
3 Cases
50 Cases
0.75 BP
1.5 P*
0.5 BP*
14.0 P
5.0 P*
97 Cases
25.5 P*
100
Cases
2 Cases
3 Cases
13 Cases
80 Cases
1 Case
3
Families
40 Cases
8 Cases
70 Cases
17 Cases
4 Cases
2 Cases
6
Families
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
29
ORPHACod
e
Disease
or Group of diseases
330050
DNM1L-related encephalopathy
due to mitochondrial and
peroxisomal fission defect
447737
DOCK2 deficiency
572761
DONSON-related microcephalyshort stature-limb abnormalities
spectrum
79500
DOORS syndrome
86309
79322
263494
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
11 Cases
5 Cases
51 Cases
3231
50 Cases
3217
18 Cases
DPAGT1-CDG
9 Cases
DPM1-CDG
1 Case
DPM3-CDG
DYNC1H1-related autosomal
209341
dominant childhood-onset
proximal spinal muscular atrophy
DYRK1A-related intellectual
464306
disability syndrome
DYRK1A-related intellectual
268261
disability syndrome due to
21q22.13q22.2 microdeletion
Dacryocystitis-osteopoikilosis
1562
syndrome
Dahlberg-Borer-Newcomer
1563
syndrome
Dandy-Walker malformation1566
postaxial polydactyly syndrome
218
2962
3214
90024
Darier disease
De Barsy syndrome
Deaf blind hypopigmentation
syndrome, Yemenite type
Deafness with labyrinthine
aplasia, microtia, and
microdontia
3241
Deafness-craniofacial syndrome
3232
Deafness-ear malformationfacial palsy syndrome
3220
254898
3218
3224
90646
94064
Deafness-enamel hypoplasia-nail
defects syndrome
Deafness-encephaloneuropathyobesity-valvulopathy syndrome
Deafness-epiphyseal dysplasiashort stature syndrome
Deafness-genital anomaliesmetacarpal and metatarsal
synostosis syndrome
Deafness-hypogonadism
syndrome
Deafness-infertility syndrome
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Deafness-intellectual disability
3 Cases
85321
syndrome, Martin-Probst type
Deafness-lymphedema-leukemia
20 Cases
3226
syndrome
5 Cases
3230
Deafness-oligodontia syndrome
37 Cases
54 Cases
19 Cases
3239
99970
Dedifferentiated liposarcoma
293978
Deficiency in anterior pituitary
function-variable
immunodeficiency syndrome
3202
Dehydrated hereditary
stomatocytosis
3034
Delayed membranous cranial
ossification
3038
Delayed speech-facial
asymmetry-strabismus-ear lobe
creases syndrome
1627
Deletion 5q35
219
Delta-sarcoglycan-related limbgirdle muscular dystrophy R6
99828
Dengue fever
99828
Dengue fever
93571
Dense deposit disease
1652
Dent disease
99789
Dentin dysplasia type I
99791
Dentin dysplasia type II
99792
Dentin dysplasia-sclerotic bones
syndrome
49042
Dentinogenesis imperfecta
5 Cases
2 Cases
5 Cases
3.4 P*
40 Cases
2 Cases
Deafness-onychodystrophy
syndrome
Deafness-small bowel
diverticulosis-neuropathy
syndrome
Deafness-vitiligo-achalasia
syndrome
50 Cases
5 Cases
2 Cases
0.27 I*
7 Cases
20
Families
2
Families
6 Cases
10 Cases
0.3 P*
714.0 I
0.5 I*
0.25 P
56 Cases
250
Families
2 Cases
4 Cases
15
Families
2 Cases
2 Cases
166260
2 Cases
71267
5 Cases
3
Families
220
Dentinogenesis imperfecta type
2
Dentinogenesis imperfecta-short
stature-hearing loss-intellectual
disability syndrome
Denys-Drash syndrome
1.0 P*
19
Families
1 Family
14.5 P*
14.6 P*
2 Cases
300
Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
30
ORPHACod
e
Disease
or Group of diseases
1656
Dermatitis herpetiformis
31112
Dermatofibrosarcoma
protuberans
1659
Dermatoleukodystrophy
221
Dermatomyositis
221
1657
86920
1901
Dermatomyositis
Dermochondrocorneal dystrophy
1660
Dermoodontodysplasia
1425
Desbuquois syndrome
84132
Desmin-related myopathy with
Mallory body-like inclusions
873
Desmoid tumor
83469
Desmoplastic small round cell
tumor
251863
Desmoplastic/nodular
medulloblastoma
35107
Desmosterolosis
329195
369891
79107
275523
66637
2141
527468
628
628
370046
Differentiated thyroid carcinoma
146
Differentiated thyroid carcinoma
90060
Diffuse alveolar hemorrhage
404437
Diffuse cerebral and cerebellar
atrophy-intractable seizuresprogressive microcephaly
syndrome
5 Cases
79456
Diffuse cutaneous mastocytosis
20 Cases
544
Diffuse large B-cell lymphoma
15 Cases
544
Diffuse large B-cell lymphoma
15 Cases
2123
6.0 P*
11 Cases
86918
50 Cases
5 Cases
2926
226
0.3 I*
300
Cases
0.01 I*
2229
243343
14 Cases
1681
Diprosopus
22 Cases
2412
Dislocation of the hipdysmorphism syndrome
79168
Disorder of bile acid synthesis
2983
Disorder of sex developmentintellectual disability syndrome
71274
Disseminated peritoneal
leiomyomatosis
18 Cases
7 Cases
2 Cases
319171
261257
254351
261102
1.2 P*
293939
0.3 BP*
18 Cases
1.0 P*
4 Cases
30 Cases
43.0 P*
2.79 I*
70 Cases
10 Cases
3 Cases
150
Cases
Dilated cardiomyopathyhypergonadotropic
hypogonadism syndrome
Dimethylglycine dehydrogenase
deficiency
Diphallia
30 Cases
2.0 I*
Dihydropteridine reductase
deficiency
227
2 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
5.25 I
Diffuse neonatal
hemangiomatosis
Diffuse palmoplantar
keratoderma-acrocyanosis
syndrome
Digital extensor muscle aplasiapolyneuropathy
10 Cases
70 Cases
Diaphragmatic defect-limb
deficiency-skull defect syndrome
Diaphragmatic hernia-short
bowel-asplenia syndrome
Didymosis aplasticosebacea
146
0.55 I*
Diaphanospondylodysostosis
Diastrophic dysplasia
Disease
or Group of diseases
2 Cases
Developmental and speech delay
due to SOX5 deficiency
Developmental delay with
autism spectrum disorder and
gait instability
Developmental delay-facial
dysmorphism syndrome due to
MED13L deficiency
Developmental malformationsdeafness-dystonia syndrome
Dianzani autoimmune
lymphoproliferative disease
Diastrophic dysplasia
ORPHACod
e
10.0 P*
Dermatoosteolysis, Kirghizian
type
Dermatopathia pigmentosa
reticularis
Dermatosparaxis Ehlers-Danlos
syndrome
79149
313892
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
27.0 P*
20
Families
1 Case
0.02 BP
33 Cases
4 Cases
0.6 P*
3 Cases
150
Cases
Distal 17p13.1 microdeletion
syndrome
Distal 17p13.3 microdeletion
syndrome
Distal 7q11.23 microdeletion
syndrome
Distal 7q11.23 microduplication
syndrome
Distal Xq28 microduplication
syndrome
399096
Distal anoctaminopathy
1146
Distal arthrogryposis type 1
16 Cases
16 Cases
41 Cases
5 Cases
9 Cases
24 Cases
0.0 P
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
31
ORPHACod
e
Disease
or Group of diseases
251515
Distal arthrogryposis type 10
329457
Distal arthrogryposis type 5D
139525
Distal hereditary motor
neuropathy type 2
139552
1307
Distal monosomy 10q
280325
Distal monosomy 12p
1590
Distal monosomy 13q
1596
Distal monosomy 15q
1620
Distal monosomy 3p
96125
Distal monosomy 6p
1642
Distal monosomy 9p
63273
488650
33 Cases
4
Families
Distal hereditary motor
neuropathy, Jerash type
Distal limb deficienciesmicrognathia syndrome
96148
178400
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
53 Cases
Distal nebulin myopathy
139547
Distal spinal muscular atrophy
type 3
3248
Distal symphalangism
314588
Distal tetrasomy 15q
96102
Distal trisomy 10q
1745
Distal trisomy 6p
3262
Dobrow syndrome
244305
Dominant hypophosphatemia
with nephrolithiasis or
osteoporosis
2143
Donnai-Barrow syndrome
255
Dopa-responsive dystonia
255
Dopa-responsive dystonia
Double uterus-hemivagina-renal
agenesis syndrome
870
Down syndrome
870
Down syndrome
33069
Dravet syndrome
50817
Duane anomaly-myopathyscoliosis syndrome
233
Duane retraction syndrome
529574
Duane retraction syndrome with
congenital deafness
235
Dubowitz syndrome
98896
Duchenne muscular dystrophy
98896
Duchenne muscular dystrophy
1203
Duodenal atresia
16 Cases
1203
Duodenal atresia
7 Cases
314621
Duplication of the pituitary gland
13 Cases
237
Duplication of urethra
300
Cases
239
Dyggve-Melchior-Clausen disease
100
Cases
412
Dysbetalipoproteinemia
412
Dysbetalipoproteinemia
1765
Dyschondrosteosis-nephritis
syndrome
41
Dyschromatosis symmetrica
hereditaria
1766
Dysequilibrium syndrome
1775
Dyskeratosis congenita
6 Cases
40 Cases
8 Cases
150
Cases
30 Cases
34 Cases
35 Cases
89 Cases
4 Cases
Distal myopathy, Tateyama type
399103
3411
30 Cases
Distal myopathy with anterior
tibial onset
Distal myopathy with posterior
leg and anterior hand
involvement
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Dopa-responsive dystonia due to
43 Cases
70594
sepiapterin reductase deficiency
Dopamine beta-hydroxylase
25 Cases
230
deficiency
0.5 BP
3427
Double outlet left ventricle
60 Cases
95.0 BP
97.7 BP*
3.3 BP*
2 Cases
10.0 P*
4 Cases
0.2 BP*
9.9 BP
2.8 P
9.0 BP*
9.0 P*
38 Cases
28 Cases
8
Families
23 Cases
40 Cases
40 Cases
2 Cases
12 Cases
50 Cases
2104
0.3 P*
2282
0.5 P
Dysmorphism-pectus carinatumjoint laxity syndrome
Dysmorphism-short staturedeafness-disorder of sex
development syndrome
7.8 P*
10.0 P
1 Family
300
Cases
51 Cases
0.1 P*
2 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
32
ORPHACod
e
Disease
or Group of diseases
1822
Dysplasia epiphysealis
hemimelica
2204
Dysplastic cortical hyperostosis
2476
Dysraphism-cleft lip/palate-limb
reduction defects syndrome
85198
Dysspondyloenchondromatosis
210571
Dystonia 16
589618
Dystonia-aphonia syndrome
521406
Dystonia-parkinsonismhypermanganesemia syndrome
303
Dystrophic epidermolysis bullosa
303
Dystrophic epidermolysis bullosa
89843
Dystrophic epidermolysis bullosa
pruriginosa
199343
EAST syndrome
293936
EDICT syndrome
1896
EEC syndrome
1897
EEM syndrome
485418
EMILIN-1-related connective
tissue disease
568065
EPHB4-related lymphatic-related
hydrops fetalis
496751
EVEN-plus syndrome
2554
Ear-patella-short stature
syndrome
1935
Early myoclonic encephalopathy
324290
Early-onset Lafora body disease
98890
Early-onset X-linked optic
atrophy
488635
2 Cases
3 Cases
Early-onset calcifying
leukoencephalopathy-skeletal
dysplasia
Early-onset epilepsy-intellectual
disability-brain anomalies
syndrome
ORPHACod
e
411986
256
16 Cases
439212
12 Cases
160
Cases
Dystonia 28
412217
556985
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.1 I
32 Cases
2379
496641
11 Cases
1943
0.572 P
0.572 P*
500144
100
Families
26 Cases
4
Families
496756
352654
1.11 BP*
7
Families
3 Cases
2
Families
3 Cases
505237
313772
Ebola hemorrhagic fever
1880
3 Cases
69083
1818
1806
247827
5 Cases
1883
0.4 P*
13 Cases
2
Families
Early-onset progressive diffuse
brain atrophy-microcephalymuscle weakness-optic atrophy
syndrome
Early-onset progressive
encephalopathy with migrant
continuous myoclonus
Early-onset progressive
encephalopathy-hearing losspons hypoplasia-brain atrophy
syndrome
Early-onset progressive
encephalopathy-spastic ataxiadistal spinal muscular atrophy
syndrome
Early-onset progressive
neurodegeneration-blindnessataxia-spasticity syndrome
Early-onset seizures-distal limb
anomalies-facial dysmorphismglobal developmental delay
syndrome
Early-onset spastic ataxiamyoclonic epilepsy-neuropathy
syndrome
319218
80 Cases
3 Cases
Early-onset parkinsonismintellectual disability syndrome
East Texas bleeding disorder
1880
13 Cases
Early-onset epileptic
encephalopathy-cortical
blindness-intellectual disabilityfacial dysmorphism syndrome
Early-onset generalized limbonset dystonia
Early-onset myopathy-areflexiarespiratory distress-dysphagia
syndrome
391320
67 Cases
4
Families
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Ebstein malformation of the
tricuspid valve
Ebstein malformation of the
tricuspid valve
Ectodermal dysplasia with natal
teeth, Turnpenny type
Ectodermal dysplasia,
trichoodontoonychial type
Ectodermal dysplasia-blindness
syndrome
Ectodermal dysplasia-cutaneous
syndactyly syndrome
Ectodermal dysplasiasensorineural deafness
syndrome
39 Cases
3 Cases
3 Cases
6 Cases
6 Cases
12 Cases
2 Cases
19 Cases
28220
Cases
1.25 P*
3.5 BP*
1 Family
7 Cases
2 Cases
4 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
33
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Ectodermal dysplasia-syndactyly
22 Cases
247820
syndrome
0.67 BP
448270
Ectopia cordis
1884
1892
Ectopia lentis-chorioretinal
dystrophy-myopia syndrome
Ectrodactyly-polydactyly
syndrome
1895
Edinburgh malformation
syndrome
98249
Ehlers-Danlos syndrome
1902
Ehrlichiosis
79106
Eiken syndrome
228240
Elastoderma
289
Ellis Van Creveld syndrome
289
Ellis Van Creveld syndrome
96170
Emanuel syndrome
180226
Embryonal carcinoma
251852
261
Embryonal tumor of
neuroepithelial tissue
Emery-Dreifuss muscular
dystrophy
1927
Emery-Nelson syndrome
1031
Enamel-renal syndrome
2396
527276
139406
833
319678
199332
8 Cases
1 Family
2
Families
0.9 BP*
50 Cases
6 Cases
5 Cases
350
Cases
0.01 I*
Endosteal hyperostosis, Worth
type
85186
Endosteal sclerosis-cerebellar
hypoplasia syndrome
Eng-Strom syndrome
60015
Enlarged parietal foramina
60015
Enlarged parietal foramina
83620
Enteric anendocrinosis
85438
Enthesitis-related juvenile
idiopathic arthritis
449566
Eosinophilic angiocentric fibrosis
402035
Eosinophilic colitis
73247
Eosinophilic esophagitis
73247
Eosinophilic esophagitis
2070
Eosinophilic gastroenteritis
183
183
183
0.22 I*
4.3 P*
3.7 P
7 Cases
5.7 P*
52 Cases
196
Cases
29.0 P*
34.4 P
280
Cases
Eosinophilic granulomatosis with
polyangiitis
Eosinophilic granulomatosis with
polyangiitis
Eosinophilic granulomatosis with
polyangiitis
1.56 P*
1.5 P
0.18 I*
0.2 I*
301
Ependymal tumor
301
Ependymal tumor
251636
Ependymoma
231742
Epibulbar lipodermoidpreauricular appendagepolythelia syndrome
35125
Epidermal nevus syndrome
400
Cases
10 Cases
302
Epidermodysplasia verruciformis
200
Cases
100
Cases
46487
Epidermolysis bullosa acquisita
304
Epidermolysis bullosa simplex
0.3 P*
2 Cases
11 Cases
77 Cases
15 Cases
Encephalopathy-hypertrophic
cardiomyopathy-renal tubular
disease syndrome
Endocrine-cerebroosteodysplasia syndrome
2790
1937
1.1 BP
Encephalopathy due to sulfite
oxidase deficiency
Endometrioid carcinoma of ovary
Disease
or Group of diseases
0.4 BP*
Encephalocraniocutaneous
lipomatosis
Encephalopathy due to
mitochondrial and peroxisomal
fission defect
Encephalopathy due to
prosaposin deficiency
454723
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2 Cases
1 Case
412181
7 Cases
0.81 I*
412189
257
6
Families
4 Cases
3.85
0.16 I*
1 Family
0.03 I*
0.656 P
Epidermolysis bullosa simplex
due to BP230 deficiency
Epidermolysis bullosa simplex
due to exophilin 5 deficiency
Epidermolysis bullosa simplex
with muscular dystrophy
141077
Epignathus
1948
Epilepsy-microcephaly-skeletal
dysplasia syndrome
2 Cases
3 Cases
40 Cases
1.68 BP
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
34
ORPHACod
e
Disease
or Group of diseases
1951
Epilepsy-telangiectasia syndrome
1825
1952
79135
79136
211067
209967
4 Cases
1 Family
2
Families
Episodic ataxia type 4
4 Cases
Episodic ataxia type 6
Episodic ataxia with slurred
speech
293381
Epithelial recurrent erosion
dystrophy
313920
Epstein-Barr virus-associated
gastric carcinoma
35687
Erdheim-Chester disease
2725
3172
166105
FASTKD2-related infantile
mitochondrial
encephalomyopathy
2492
FATCO syndrome
404451
13 Cases
313855
186
Cases
34515
500
Cases
6 Cases
Ermine phenotype
200
Cases
Erythrokeratodermia variabilis
476096
Erythrokeratodermiacardiomyopathy syndrome
1199
Esophageal atresia
FLOTCH syndrome
261144
FOXG1 syndrome due to 14q12
microdeletion
247790
FTH1-related iron overload
324
Fabry disease
3318
Essential thrombocythemia
1957
Esthesioneuroblastoma
785
Estrogen resistance syndrome
51188
Ethylmalonic encephalopathy
1959
Evans syndrome
1962
3294
3023
3 Cases
24.3 BP*
0.48 I*
Extragonadal germ cell tumor
209916
Extraskeletal myxoid
chondrosarcoma
466950
2 Cases
80 Cases
352712
0.1 P*
412022
Exostoses-anetodermiabrachydactyly type E syndrome
Extensor tendons of finger
anomalies
External auditory canal atresiavertical talus-hypertelorism
syndrome
363579
284169
0.02 I*
1 Family
2 Cases
1970
10 Cases
314555
0.13 I*
0.2 P*
FBLN1-related developmental
delay-central nervous system
anomaly-syndactyly syndrome
FGFR2-related bent bone
dysplasia
FKRP-related limb-girdle
muscular dystrophy R9
2045
1969
1778
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Extrasystoles-short staturehyperpigmentation-microcephaly
syndrome
Eye defects-arachnodactylycardiopathy syndrome
Eyebrow duplication-syndactyly
syndrome
FADD-related immunodeficiency
7 Cases
1.2 I
Disease
or Group of diseases
306550
7 Cases
Episodic ataxia type 5
401953
317
2 Cases
Episodic ataxia type 3
Episodic ataxia type 7
ORPHACod
e
1964
Epiphyseal dysplasia-hearing
loss-dysmorphism syndrome
Epiphyseal stippling-osteoclastic
hyperplasia syndrome
209970
999
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
6 Cases
Facial dysmorphism-anorexiacachexia-eye and skin anomalies
syndrome
Facial dysmorphismdevelopmental delay-behavioral
abnormalities syndrome due to
10p11.21p12.31 microdeletion
Facial dysmorphismdevelopmental delay-behavioral
abnormalities syndrome due to
WAC point mutation
Facial dysmorphismimmunodeficiency-livedo-short
stature syndrome
Facial dysmorphism-lens
dislocation-anterior segment
abnormalities-spontaneous
filtering blebs syndrome
Facial dysmorphismmacrocephaly-myopia-DandyWalker malformation syndrome
Facial dysmorphism-severe
myopia-osteopenia-intellectual
disability-dental anomalies
syndrome
Facial dysmorphism-shawl
scrotum-joint laxity syndrome
2 Cases
6 Cases
3 Cases
4 Cases
3 Cases
22 Cases
3 Cases
11 Cases
1.0 P*
6
Families
3 Cases
4 Cases
0.22 BP*
3 Cases
19 Cases
10 Cases
11 Cases
4
Families
3 Cases
5 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
35
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Facial onset sensory and motor
47 Cases
85162
neuronopathy
4 Cases
1973
Faciocardiorenal syndrome
269
3304
280397
Facioscapulohumeral dystrophy
ORPHACod
e
Disease
or Group of diseases
238578
Familial clubfoot due to
17q23.1q23.2 microduplication
238722
4.5 P*
451612
Fallot complex-intellectual
disability-growth delay
syndrome
Familial Alzheimer-like prion
disease
5 Cases
91498
2 Cases
Familial congenital mirror
movements
Familial congenital nasolacrimal
duct obstruction
Familial congenital palsy of
trochlear nerve
319189
Familial cortical myoclonus
53296
Familial cutaneous collagenoma
Familial Chilblain lupus
10
Families
313846
535458
Familial GPIHBP1 deficiency
10
Families
Familial cutaneous telangiectasia
and oropharyngeal cancer
predisposition syndrome
79293
Familial LCAT deficiency
70 Cases
1799
Familial developmental
dysphasia
88619
Familial acute necrotizing
encephalopathy
14
Families
324588
Familial dyskinesia and facial
myokymia
85110
Familial encephalopathy with
neuroserpin inclusion bodies
481662
733
Familial adenomatous polyposis
95700
Familial adrenal hypoplasia with
absent pituitary luteinizing
hormone
228277
Familial anetoderma
530849
Familial apolipoprotein A5
deficiency
309020
615
1551
Familial benign copper deficiency
1416
Familial calcium pyrophosphate
deposition
221061
1428
444490
12
Families
3
Families
10
Families
17
Families
Familial atrial myxoma
Familial atrial tachyarrhythmiainfra-Hisian cardiac conduction
disease
464760
3 Cases
Familial apolipoprotein C-II
deficiency
436242
1768
6.0 P*
464756
1 Family
Familial hyperaldosteronism type
III
238475
Familial hypercholanemia
424
Familial hyperthyroidism due to
mutations in TSH receptor
352582
Familial hypocalciuric
hypercalcemia type 1
Familial infantile myoclonic
epilepsy
Familial isolated dilated
cardiomyopathy
Familial isolated dilated
cardiomyopathy
100
Families
154
4 Cases
154
17 Cases
99879
Familial isolated
hyperparathyroidism
2238
Familial isolated
hypoparathyroidism
2239
Familial isolated
hypoparathyroidism due to
agenesis of parathyroid gland
15.0 P
5
Families
0.97 P*
75 Cases
4 Cases
6 Cases
11 Cases
16 Cases
24 Cases
6
Families
18 Cases
6
Families
Familial episodic pain syndrome
with predominantly lower limb
involvement
Familial episodic pain syndrome
with predominantly upper body
involvement
Familial gastric type 1
neuroendocrine tumor
251274
93372
Familial chondromalacia patellae
Familial chylomicronemia
syndrome
391389
7 Cases
Familial caudal dysgenesis
Familial cavitary optic disc
anomaly
Familial cerebral cavernous
malformation
391392
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4
Families
28 Cases
21 Cases
5 Cases
7
Families
23 Cases
28
Families
5.5 P
7 Cases
2.91 I*
17.5 P*
100
Families
10
Families
2
Families
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
36
ORPHACod
e
Disease
or Group of diseases
314777
Familial isolated pituitary
adenoma
411788
Familial isolated trichomegaly
535453
Familial lipase maturation factor
1 deficiency
401942
Familial median cleft of the
upper and lower lips
618
Familial melanoma
165805
Familial mesial temporal lobe
epilepsy with febrile seizures
495930
Familial monosomy 7 syndrome
538756
Familial multiple discoid
fibromas
922
Familial nasal acilia
280403
569
2769
97290
79084
306516
2196
31043
34527
871
280628
Familial omphalocele syndrome
with facial dysmorphism
Familial or sporadic hemiplegic
migraine
Familial osteodysplasia,
Anderson type
Familial papillary thyroid
carcinoma with renal papillary
neoplasia
Familial partial lipodystrophy,
Köbberling type
Familial primary
hypomagnesemia with
hypercalciuria and
nephrocalcinosis
Familial primary
hypomagnesemia with
hypercalciuria and
nephrocalcinosis with severe
ocular involvement
Familial primary
hypomagnesemia with
hypercalciuria and
nephrocalcinosis without severe
ocular involvement
Familial primary
hypomagnesemia with
normocalciuria and
normocalcemia
Familial progressive cardiac
conduction defect
Familial progressive hyper- and
hypopigmentation
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
150
Cases
2
Families
2
Families
8 Cases
1.5 I*
4 Cases
14
Families
44 Cases
8 Cases
5 Cases
10.0 P*
ORPHACod
e
488197
79147
2 Cases
20 Cases
200
Cases
72 Cases
110
Cases
Familial rhabdoid tumor
168624
Familial scaphocephaly
syndrome, McGillivray type
51083
Familial short QT syndrome
166282
Familial sick sinus syndrome
280406
91387
93953
95716
Fanconi anemia
84
Fanconi anemia
2088
Fanconi-Bickel syndrome
333
Farber disease
439854
Fatal congenital hypertrophic
cardiomyopathy due to glycogen
storage disease
466
Fatal familial insomnia
438178
50 Cases
3
Families
Familial thyroid
dyshormonogenesis
Familial thyroid
dyshormonogenesis
84
391343
50 Cases
5
Families
11 Cases
80
Families
11 Cases
13 Cases
22 Cases
22 Cases
Familial thyroglossal duct cyst
Fanconi anemia
280553
9 Cases
Familial steroid-resistant
nephrotic syndrome with
sensorineural deafness
Familial thoracic aortic aneurysm
and aortic dissection
84
168566
5
Families
Familial progressive retinal
dystrophy-iris colobomacongenital cataract syndrome
Familial reactive perforating
collagenosis
231108
95716
4 Cases
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Fatal infantile hypertonic
myofibrillar myopathy
Fatal mitochondrial disease due
to combined oxidative
phosphorylation defect type 3
Fatal post-viral
neurodegenerative disorder
Fatty acyl-CoA reductase 1
deficiency
2.67 I
4.0 P*
0.3 P*
0.62 BP*
0.3 P
200
Cases
96 Cases
10 Cases
27 Cases
11 Cases
7 Cases
2 Cases
3 Cases
1305
Feingold syndrome
123
Cases
391641
Feingold syndrome type 1
120
Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
37
ORPHACod
e
Disease
or Group of diseases
391646
Feingold syndrome type 2
488191
404466
Female infertility due to oocyte
meiotic arrest
Female infertility due to zona
pellucida defect
101039
Female restricted epilepsy with
intellectual disability
1988
Femoral-facial syndrome
2019
Femur-fibula-ulna complex
397922
Ferro-cerebro-cutaneous
syndrome
85212
Fetal Gaucher disease
994
363409
Fetal akinesia deformation
sequence
Fetal akinesia-cerebral and
retinal hemorrhage syndrome
1915
Fetal alcohol syndrome
294
Fetal cytomegalovirus syndrome
465824
Fetal encasement syndrome
1917
1906
464724
Fetal valproate spectrum
disorder
Fever-associated acute infantile
liver failure syndrome
Fibroblastic rheumatism
2021
Fibrochondrogenesis
337
401920
84090
2030
1118
1757
Fibrodysplasia ossificans
progressiva
Fibrodysplasia ossificans
progressiva
Fibrolamellar hepatocellular
carcinoma
5
Families
62 Cases
1.5 BP*
3 Cases
50 Cases
Fibular hemimelia
2256
Fibulo-ulnar hypoplasia-renal
anomalies syndrome
3255
Filippi syndrome
369979
Finger hyperphalangy-toe
anomalies-severe pectus
excavatum syndrome
97232
Fingerprint body myopathy
399086
Finnish upper limb-onset distal
myopathy
79292
Fish-eye disease
1968
Flat face-microstomia-ear
anomaly syndrome
98970
Fleck corneal dystrophy
2047
Flynn-Aird syndrome
2092
Focal dermal hypoplasia
352587
Focal epilepsy-intellectual
disability-cerebro-cerebellar
malformation
398166
Focal facial dermal dysplasia
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
29 Cases
2 Cases
20 Cases
7 Cases
30 Cases
2 Cases
30 Cases
10 Cases
0.6 BP*
300
Cases
3 Cases
1.6 BP*
7 Cases
147
Cases
40.0 P*
2 Cases
800
Cases
1.02 BP*
11 Cases
Focal facial dermal dysplasia type
I
Focal facial dermal dysplasia type
398173
II
Focal facial dermal dysplasia type
1807
III
Focal facial dermal dysplasia type
398189
IV
81 Cases
79133
22 Cases
20 Cases
21 Cases
115
Cases
30 Cases
48918
Focal myositis
20 Cases
1866
0.05 P
1866
0.078 P*
0.025 I*
16
Families
0.01 I*
Fibular aplasia-ectrodactyly
syndrome
Fibular dimelia-diplopodia
syndrome
93323
Disease
or Group of diseases
4 Cases
Fibronectin glomerulopathy
Fibrosarcoma
ORPHACod
e
16 Cases
Fetal methylmercury syndrome
477650
337
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
7 Cases
50 Cases
11 Cases
2.0 P*
2 Cases
Focal, segmental or multifocal
dystonia
Focal, segmental or multifocal
dystonia
2048
Foix-Chavany-Marie syndrome
300552
Follicular cholangitis and
pancreatitis
545
Follicular lymphoma
545
Follicular lymphoma
228371
Foodborne botulism
3219
Fountain syndrome
397618
Foveal hypoplasia-optic nerve
decussation defect-anterior
segment dysgenesis syndrome
2.0 I*
11.7 P*
150
Cases
5 Cases
37.0 P*
2.192 I*
0.1 I*
8 Cases
7
Families
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
38
ORPHACod
e
2253
2795
Disease
or Group of diseases
Foveal hypoplasia-presenile
cataract syndrome
Fowler urethral sphincter
dysfunction syndrome
221126
Fowler vasculopaty
908
Fragile X syndrome
908
908
Fragile X syndrome
Fragile X syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
11 Cases
44 Cases
32.5 P
2.4 BP*
20.0 P*
30 Cases
Frank-Ter Haar syndrome
2052
Fraser syndrome
347
Frasier syndrome
150
Cases
834
Free sialic acid storage disease
130
Cases
2053
Freeman-Sheldon syndrome
100
Cases
Fried syndrome
99672
Fried's tooth and nail syndrome
95
Friedreich ataxia
1791
Frontofacionasal dysplasia
1826
250
228390
521308
306542
Frontotemporal dementia
2059
Fryns syndrome
2058
Fryns-Smeets-Thiry syndrome
2854
1 Family
12 Cases
Fucosidosis
Fuhrmann syndrome
206554
Fukutin-related limb-girdle
muscular dystrophy R13
24
Fumaric aciduria
2067
GAPO syndrome
438274
GCGR-related
hyperglucagonemia
354
GM1 gangliosidosis
79255
GM1 gangliosidosis type 1
79256
GM1 gangliosidosis type 2
79257
GM1 gangliosidosis type 3
309152
GM2 gangliosidosis
309246
GM2 gangliosidosis, AB variant
363623
GMPPB-related limb-girdle
muscular dystrophy R19
2090
GMS syndrome
592564
2.0 P*
542306
14 Cases
100
Cases
5 Cases
11 Cases
GNE myopathy
589547
GRIN2B-related developmental
delay, intellectual disability and
autism spectrum disorder
2102
GTP cyclohydrolase I deficiency
506358
Gabriele-de Vries syndrome
570422
Galactose mutarotase deficiency
352
Galactosemia
352
Galactosemia
351
Galactosialidosis
2065
Galloway-Mowat syndrome
2066
Gamma-aminobutyric acid
transaminase deficiency
33573
Gamma-glutamyl transpeptidase
deficiency
3 Cases
3.0 P*
40 Cases
60 Cases
8 Cases
0.75 BP*
200
Cases
50 Cases
70 Cases
5.0 P*
10 Cases
2 Cases
1 Family
GNAO1-related developmental
delay-seizures-movement
disorder spectrum
GNB5-related intellectual
disability-cardiac arrhythmia
syndrome
602
0.7 BP*
Frontonasal dysplasia-alopeciagenital anomalies syndrome
Frontonasal dysplasia-bifid noseupper limb anomalies syndrome
Frontonasal dysplasia-severe
microphthalmia-severe facial
clefting syndrome
282
349
0.2 BP*
Frontometaphyseal dysplasia
Frontonasal dysplasia
Disease
or Group of diseases
33 Cases
137834
85335
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
5
Families
7.0 BP*
75 Cases
22 Cases
1.0 P
98 Cases
16 Cases
10 Cases
0.4 I
2.0 BP*
2.1 I*
100
Cases
2 Cases
100
Cases
11 Cases
97 Cases
3
Families
7 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
39
ORPHACod
e
Disease
or Group of diseases
100026
Gamma-heavy chain disease
353
Gamma-sarcoglycan-related
limb-girdle muscular dystrophy
R5
79665
Gardner syndrome
314022
Gastric adenocarcinoma and
proximal polyposis of the
stomach
2069
Gastrocutaneous syndrome
44890
Gastrointestinal stromal tumor
44890
Gastrointestinal stromal tumor
44890
Gastrointestinal stromal tumor
2368
Gastroschisis
355
355
355
77259
77260
Gaucher disease
Gaucher disease
Gaucher disease
Gaucher disease type 1
Gaucher disease type 2
77261
Gaucher disease type 3
2072
Gaucher diseaseophthalmoplegia-cardiovascular
calcification syndrome
2623
Geleophysic dysplasia
2074
Gemignani syndrome
51608
Generalized arterial calcification
of infancy
411777
Generalized eruptive
keratoacanthoma
98497
Genetic peripheral neuropathy
34526
Genetic primary
hypomagnesemia
2075
Genitopalatocardiac syndrome
85201
Genitopatellar syndrome
93398
Genochondromatosis type 2
2077
German syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
120
Cases
ORPHACod
e
Disease
or Group of diseases
2078
Geroderma osteodysplastica
356
Gerstmann-Straussler-Scheinker
syndrome
643
Giant axonal neuropathy
251579
Giant cell glioblastoma
2025
Gingival fibromatosis-facial
dysmorphism syndrome
2027
Gingival fibromatosis-progressive
deafness syndrome
358
Gitelman syndrome
0.2 P*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
50 Cases
0.0055 I
50
Families
9.1 BP
28 Cases
24 Cases
13.0 P*
1.0 I
1.0 I*
238763
16.9 BP*
2084
1.7 I*
1.3 BP
1.0 P*
1.0 P*
0.01 P*
0.05 P*
2085
Glaucoma-sleep apnea syndrome
182067
Glial tumor
182067
Glial tumor
360
Glioblastoma
360
Glioblastoma
360
Glioblastoma
251582
Gliomatosis cerebri
251576
Gliosarcoma
2 Cases
300
Cases
40 Cases
544488
404476
40.0 P
500
Cases
15 Cases
488613
73223
22 Cases
480898
10 Cases
5 Cases
141163
2 Cases
2
Families
2.5 P*
Glaucoma secondary to
spherophakia/ectopia lentis and
megalocornea
Glaucoma-ectopia lentismicrospherophakia-stiff jointsshort stature syndrome
10 Cases
27 Cases
0.02 I*
Global developmental delayalopecia-macrocephaly-facial
dysmorphism-structural brain
anomalies syndrome
Global developmental delay-lung
cysts-overgrowth-Wilms tumor
syndrome
Global developmental delayneuro-ophthalmological
abnormalities-seizuresintellectual disability syndrome
Global developmental delayosteopenia-ectodermal defect
syndrome
Global developmental delayvisual anomalies-progressive
cerebellar atrophy-truncal
hypotonia syndrome
Glossopalatine ankylosis
12 Cases
3 Cases
5 Cases
26.0 P*
5.35 I*
3.0 I
2.52 I*
1.0 P
0.01 I*
0.03 I*
5 Cases
2 Cases
26 Cases
3 Cases
6 Cases
30 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
40
ORPHACod
e
Disease
or Group of diseases
97280
Glucagonoma
33574
25
32
407
34587
365
365
420429
364
79258
79259
367
2089
264580
137625
99849
371
715
713
97234
370
Glutamate-cysteine ligase
deficiency
Glutaryl-CoA dehydrogenase
deficiency
Glutathione synthetase
deficiency
Glycine encephalopathy
Glycogen storage disease due to
LAMP-2 deficiency
Glycogen storage disease due to
acid maltase deficiency
Glycogen storage disease due to
acid maltase deficiency
Glycogen storage disease due to
acid maltase deficiency, lateonset
Glycogen storage disease due to
glucose-6-phosphatase
deficiency
Glycogen storage disease due to
glucose-6-phosphatase
deficiency type Ia
Glycogen storage disease due to
glucose-6-phosphatase
deficiency type Ib
Glycogen storage disease due to
glycogen branching enzyme
deficiency
Glycogen storage disease due to
hepatic glycogen synthase
deficiency
Glycogen storage disease due to
liver phosphorylase kinase
deficiency
Glycogen storage disease due to
muscle and heart glycogen
synthase deficiency
Glycogen storage disease due to
muscle beta-enolase deficiency
Glycogen storage disease due to
muscle phosphofructokinase
deficiency
Glycogen storage disease due to
muscle phosphorylase kinase
deficiency
Glycogen storage disease due to
phosphoglycerate kinase 1
deficiency
Glycogen storage disease due to
phosphoglycerate mutase
deficiency
Glycogen storage disease due to
phosphorylase kinase deficiency
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.005 I*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
ORPHACod
e
Disease
or Group of diseases
263297
Glycogen storage disease with
severe cardiomyopathy due to
glycogenin deficiency
329984
Goblet cell carcinoma
66629
Goldberg-Shprintzen megacolon
syndrome
53540
Goldmann-Favre syndrome
1986
Gollop-Wolfgang complex
200
Cases
169105
Good syndrome
241
Cases
65798
Goodman syndrome
73
Gorham-Stout disease
377
Gorlin syndrome
377
Gorlin syndrome
2095
Gorlin-Chaudhry-Moss syndrome
39812
Graft versus host disease
79094
Grange syndrome
2097
Grant syndrome
900
Granulomatosis with polyangiitis
900
Granulomatosis with polyangiitis
33111
Granulomatous slack skin
721
Gray platelet syndrome
293375
Grayson-Wilbrandt corneal
dystrophy
100
Cases
1426
Greenberg dysplasia
30 Cases
381
Griscelli syndrome
30
Families
79476
Griscelli syndrome type 1
79477
Griscelli syndrome type 2
79478
Griscelli syndrome type 3
391348
Growth and developmental
delay-hypotonia-vision
impairment-lactic acidosis
syndrome
10 Cases
1.0 BP
70 Cases
0.17 P*
84 Cases
1 Case
0.025 I
24 Cases
50 Cases
0.8 BP*
3.0 P*
3 Cases
1.75 BP
1.0 BP
1.0 BP*
150
Cases
0.1 BP
16 Cases
1.0 BP*
4 Cases
1 Case
300
Cases
2.0 P*
1.1 P
7 Cases
5.0 P*
7 Cases
1 Family
0.85 I*
9.0 P*
50 Cases
60 Cases
1 Family
10 Cases
150
Cases
20 Cases
102
Cases
50 Cases
1.0 BP*
13 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
41
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Growth delay due to insulin-like
5 Cases
73272
growth factor type 1 deficiency
Growth delay-hydrocephaly-lung
4 Cases
3035
hypoplasia syndrome
Growth delay-intellectual
6 Cases
541423
disability-hepatopathy syndrome
Growth retardation-mild
2 Cases
391366
developmental delay-chronic
hepatitis syndrome
Grubben-de Cock-Borghgraef
3 Cases
2101
syndrome
Guanidinoacetate
80 Cases
382
methyltransferase deficiency
1.45 I
2103
Guillain-Barré syndrome
ORPHACod
e
Disease
or Group of diseases
2108
Hallermann-Streiff syndrome
2109
Hallermann-Streiff-like syndrome
2110
93946
200
Cases
199282
Harlequin syndrome
100
Cases
1.4 I*
2115
Harrod syndrome
3.5 P*
2116
Hartnup disease
3 Cases
2117
Hartsfield syndrome
200
Cases
2118
Hawkinsinuria
Guillain-Barré syndrome
2957
Guttmacher syndrome
414
Gyrate atrophy of choroid and
retina
1532
Gómez-López-Hernández
syndrome
168569
H syndrome
100
Cases
73229
HANAC syndrome
6
Families
1354
2 Cases
1350
Heart-hand syndrome type 2
2
Families
1342
Heart-hand syndrome type 3
168796
Heart-hand syndrome, Slovenian
type
5 Cases
86813
Helicoid peripapillary
chorioretinal degeneration
3 Cases
562509
Heme oxygenase-1 deficiency
21 Cases
306741
Hemidystonia-hemiatrophy
syndrome
60 Cases
141148
Hemifacial myohyperplasia
276280
Hemihyperplasia-multiple
lipomatosis syndrome
2130
Hemimelia
306669
Hemiparkinsonism-hemiatrophy
syndrome
79230
Hemochromatosis type 2
225123
Hemochromatosis type 3
HNRNPDL-related limb-girdle
muscular dystrophy D3
391417
HSD10 disease
4 Cases
Harlequin ichthyosis
2103
55596
2 Cases
457
Guillain-Barré syndrome
HEC syndrome
2 Cases
Hallux varus-preaxial
polysyndactyly syndrome
Hamel cerebro-palato-cardiac
syndrome
2103
2119
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
150
Cases
36 Cases
3225
37 Cases
85295
HSD10 disease, atypical type
391457
HSD10 disease, neonatal type
482077
HTRA1-related autosomal
dominant cerebral small vessel
disease
99803
Haddad syndrome
2342
Haim-Munk syndrome
100
Cases
955
Hajdu-Cheney syndrome
100
Cases
2107
Hall-Riggs syndrome
8 Cases
1338
3 Cases
4.2 P
35 Cases
5
Families
Hearing loss-familial salivary
gland insensitivity to aldosterone
syndrome
Heart defect-tongue hamartomapolysyndactyly syndrome
Heart defects-limb shortening
syndrome
2 Cases
4 Cases
2 Cases
2
Families
3 Cases
14 Cases
100
Cases
3 Cases
100
Cases
12 Cases
10 Cases
4.15 P*
68 Cases
74 Cases
33 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
42
ORPHACod
e
Disease
or Group of diseases
139491
Hemochromatosis type 4
280615
86817
712
90030
766
357008
Hemolytic anemia due to
glucophosphate isomerase
deficiency
Hemolytic anemia due to
glutathione reductase deficiency
Hemolytic anemia due to red cell
pyruvate kinase deficiency
Hemolytic uremic syndrome with
DGKE deficiency
448
Hemophilia
98878
Hemophilia A
98878
Hemophilia A
98878
Hemophilia A
98879
Hemophilia B
98879
Hemophilia B
340
Hemorrhagic disease due to
alpha-1-antitrypsin Pittsburgh
mutation
Hemorrhagic fever-renal
syndrome
Hemorrhagic fever-renal
syndrome
324632
Hendra virus infection
2136
Hennekam syndrome
2135
2031
79124
90073
Hepatic fibrosis-renal cystsintellectual disability syndrome
Hepatic veno-occlusive diseaseimmunodeficiency syndrome
Hepatitis B reinfection following
liver transplantation
Hepatitis delta
449
Hepatoblastoma
Hepatoblastoma
ORPHACod
e
Disease
or Group of diseases
88673
Hepatocellular carcinoma
88673
Hepatocellular carcinoma
137681
Hepatoencephalopathy due to
combined oxidative
phosphorylation defect type 1
95159
Hepatoerythropoietic porphyria
50 Cases
168583
3 Cases
5.0 P*
2907
91378
47 Cases
6.25 I*
289601
145
7.7 P*
8.0 P*
11.25 BP
Hereditary cerebral hemorrhage
with amyloidosis
676
Hereditary chronic pancreatitis
1.665 BP
398088
4 Cases
168577
26106
37.0 P*
7 Cases
313808
50 Cases
3 Cases
2.0 P*
40.0 P*
Hereditary arterial and articular
multiple calcification syndrome
Hereditary breast and ovarian
cancer syndrome
85458
98434
0.74 I*
Hereditary angioedema
Hereditary bullous dystrophy,
macular type
3.0 P*
221043
Hereditary diffuse gastric cancer
Hereditary folate malabsorption
28 Cases
469
Hereditary fructose intolerance
774
Hereditary hemorrhagic
telangiectasia
3197
Hereditary hyperekplexia
163
217407
2 Cases
40 Cases
36 Cases
41 Cases
5.0 P*
16 Cases
25.0 P*
2
Families
350
Cases
0.43 P*
30
Families
53 Cases
3 Cases
1.5 I*
Hereditary diffuse
leukoencephalopathy with
axonal spheroids and pigmented
glia
Hereditary fibrosing
poikiloderma-tendon
contractures-myopathypulmonary fibrosis syndrome
90045
0.54
3.221 I*
Hereditary combined deficiency
of vitamin K-dependent clotting
factors
Hereditary cryohydrocytosis with
normal stomatin
Hereditary cryohydrocytosis with
reduced stomatin
4 Cases
0.02 I*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
15.0 P*
Hereditary North American
Indian childhood cirrhosis
Hereditary acrokeratotic
poikiloderma
1867
4.85 P
Hennekam-Beemer syndrome
402823
449
7
Families
Hemolytic anemia due to
adenylate kinase deficiency
Hemophilia
340
10 Cases
Hemoglobinopathy Toms River
448
178396
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
200
Cases
Hereditary hyperferritinemiacataract syndrome
Hereditary hypotrichosis with
recurrent skin vesicles
27 Cases
15 Cases
30 Cases
5.0 P*
16.0 P*
150
Cases
64 Cases
4 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
43
ORPHACod
e
324381
79091
Disease
or Group of diseases
Hereditary inclusion body
myopathy type 4
Hereditary inclusion body
myopathy-joint contracturesophthalmoplegia syndrome
523
Hereditary leiomyomatosis and
renal cell cancer
90117
Hereditary motor and sensory
neuropathy, Okinawa type
178464
Hereditary myopathy with early
respiratory failure
43115
Hereditary myopathy with lactic
acidosis due to ISCU deficiency
1062
Hereditary neurocutaneous
malformation
640
Hereditary neuropathy with
liability to pressure palsies
279943
Hereditary neutrophilia
30
Hereditary orotic aciduria
79141
Hereditary painful callosities
476102
Hereditary pediatric Behçet-like
disease
168615
29072
158025
221039
280598
320385
139564
970
314381
391397
478664
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
17 Cases
Hereditary sensory and
autonomic neuropathy type 1B
Hereditary sensory and
autonomic neuropathy type 2
Hereditary sensory and
autonomic neuropathy type 6
Hereditary sensory and
autonomic neuropathy type 7
Hereditary sensory and
autonomic neuropathy type 8
Disease
or Group of diseases
139573
Hereditary sensory and
autonomic neuropathy with
deafness and global delay
456318
Hereditary sensory neuropathydeafness-dementia syndrome
685
Hereditary spastic paraplegia
685
Hereditary spastic paraplegia
21 Cases
200
Cases
120
Cases
10
Families
84093
480851
4 Cases
6
Families
4.8 P*
4.2 P
Hereditary thermosensitive
neuropathy
Hereditary thrombocytopenia
with early-onset myelofibrosis
1 Family
9 Cases
19 Cases
9
Families
3.5 P*
16 Cases
20 Cases
Hereditary persistence of alphafetoprotein
Hereditary pheochromocytomaparaganglioma
Hereditary progressive mucinous
histiocytosis
Hereditary sclerosing
poikiloderma, Weary type
Hereditary sensorimotor
neuropathy with hyperelastic
skin
Hereditary sensory and
autonomic neuropathy due to
TECPR2 mutation
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3467
Hereditary xanthinuria
3467
Hereditary xanthinuria
275777
Heritable pulmonary arterial
hypertension
79430
Hermansky-Pudlak syndrome
183678
231531
13 Cases
1930
Herpes simplex virus encephalitis
19
Families
137599
Herpes simplex virus stromal
keratitis
189
Hidrotic ectodermal dysplasia
1808
18 Cases
9 Cases
4 Cases
5 Cases
1809
314029
363396
231080
Hidrotic ectodermal dysplasia,
Christianson-Fourie type
Hidrotic ectodermal dysplasia,
Halal type
High bone mass osteogenesis
imperfecta
High myopia-sensorineural
deafness syndrome
High-grade dysplasia in patients
with Barrett esophagus
388
Hirschsprung disease
2
Families
388
Hirschsprung disease
35 Cases
2155
4 Cases
2153
3 Cases
2150
11
Families
2158
9.05 I*
0.08 P*
0.15 P
Hermansky-Pudlak syndrome
due to AP-3 deficiency
Hermansky-Pudlak syndrome
due to BLOC-1 deficiency
2
Families
0.3 I
150
Cases
Hirschsprung disease-deafnesspolydactyly syndrome
Hirschsprung disease-nail
hypoplasia-dysmorphism
syndrome
Hirschsprung disease-type D
brachydactyly syndrome
Histidinuria-renal tubular defect
syndrome
40 Cases
9 Cases
0.3 I
16.0 P*
1.0 P*
6 Cases
4 Cases
2 Cases
7 Cases
36.0 P*
13.2 BP*
10.0 BP
2 Cases
3 Cases
4 Cases
5 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
44
ORPHACod
e
Disease
or Group of diseases
98287
Histiocytic and dendritic cell
tumor
98293
Hodgkin lymphoma
98293
Hodgkin lymphoma
79242
Holocarboxylase synthetase
deficiency
2162
2163
3186
Holoprosencephaly
Holt-Oram syndrome
2167
Holzgreve syndrome
391665
Homocystinuria without
methylmalonic aciduria
Homozygous familial
hypercholesterolemia
3322
Hoyeraal-Hreidarsson syndrome
228116
Hughes-Stovin syndrome
56970
Human prion disease
56970
3265
2.4 I*
Human prion disease
ORPHACod
e
740
740
498474
94056
2182
13.4 BP*
11 Cases
4 Cases
2182
2186
2180
0.7 BP*
3 Cases
2183
73 Cases
1397
0.1 P
2184
33 Cases
2181
30 Cases
528091
0.15 I*
0.3 P*
150
Cases
Humero-radial synostosis
5 Cases
Humero-ulnar synostosis
Humerus trochlea aplasia
97340
Hunter-McAlpine
craniosynostosis
399
Huntington disease
399
Huntington disease
399
Huntington disease
98934
Huntington disease-like 2
401901
Huntington disease-like
syndrome due to C9ORF72
expansions
93473
Hurler syndrome
93473
Hurler syndrome
0.005 P
150
Cases
Hyaline fibromatosis syndrome
5 Cases
10 Cases
Hydroxykynureninuria
309147
Hyper-beta-alaninemia
168588
276405
209902
0.38 I
83639
12.0 P*
2.7 P
163985
50
Families
Hydrocephalus with stenosis of
the aqueduct of Sylvius
Hydrocephalus with stenosis of
the aqueduct of Sylvius
Hydrocephalus-blue scleraenephropathy syndrome
Hydrocephalus-costovertebral
dysplasia-Sprengel anomaly
syndrome
Hydrocephalus-obesityhypogonadism syndrome
Hydrocephaly-cerebellar
agenesis syndrome
Hydrocephaly-low insertion
umbilicus syndrome
Hydrocephaly-tall stature-joint
laxity syndrome
Hydrops-lactic acidosissideroblastic anemiamultisystemic failure syndrome
79155
30 Cases
Humero-radio-ulnar synostosis
3383
Hutchinson-Gilford progeria
syndrome
Hutchinson-Gilford progeria
syndrome
0.5 BP*
401948
3266
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.025 BP
46.9
Holoprosencephalycraniosynostosis syndrome
Holoprosencephaly-radial heart
renal anomalies syndrome
392
622
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.05 I*
1.7 P
1 Family
8 Cases
2 Cases
2 Cases
2 Cases
2 Cases
1 Case
30 Cases
2 Cases
Hyperammonemic
encephalopathy due to carbonic
anhydrase VA deficiency
Hyperandrogenism due to
cortisone reductase deficiency
4 Cases
11 Cases
2 Cases
Hyperbiliverdinemia
Hypercholesterolemia due to
cholesterol 7alpha-hydroxylase
deficiency
Hypercoagulability syndrome
due to
glycosylphosphatidylinositol
deficiency
Hyperekplexia-epilepsy
syndrome
168956
Hypereosinophilic syndrome
2410
Hypergonadotropic
hypogonadism-cataract
syndrome
0.5 P*
343
Hyperimmunoglobulinemia D
with periodic fever
0.7 BP*
324575
Hyperinsulinism due to HNF1A
deficiency
10 Cases
1.7 BP
24 Cases
2
Families
4 Cases
1.5 P*
3 Cases
200
Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
45
ORPHACod
e
263458
276556
71212
682
1336
285
415
3416
Disease
or Group of diseases
Hyperinsulinism due to INSR
deficiency
Hyperinsulinism due to UCP2
deficiency
Hyperinsulinism due to short
chain 3-hydroxylacyl-CoA
dehydrogenase deficiency
Hyperkalemic periodic paralysis
Hyperkeratosishyperpigmentation syndrome
Hypermobile Ehlers-Danlos
syndrome
Hyperornithinemiahyperammonemiahomocitrullinuria syndrome
Hyperostosis corticalis
generalisata
443098
Hyperostosis cranialis interna
99880
Hyperparathyroidism-jaw tumor
syndrome
508523
238583
247262
2211
2213
293958
Hyperphenylalaninemia due to
DNAJC12 deficiency
Hyperphenylalaninemia due to
tetrahydrobiopterin deficiency
Hyperphosphatasia-intellectual
disability syndrome
Hypertelorism-hypospadiaspolysyndactyly syndrome
Hypertelorism-microtia-facial
clefting syndrome
Hypertelorism-preauricular
sinus-punctual pits-deafness
syndrome
2220
Hypertrichosis cubiti
2222
Hypertrichosis lanuginosa
congenita
966
1517
324525
2224
363694
251523
Hypertrichosis-acromegaloid
facial appearance syndrome
Hypertrichotic
osteochondrodysplasia, Cantu
type
Hypertrophic cardiomyopathy
and renal tubular disease due to
mitochondrial DNA mutation
Hypertryptophanemia
Hyperuricemia-pulmonary
hypertension-renal failurealkalosis syndrome
Hyperzincemia and
hypercalprotectinemia
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
10 Cases
2 Cases
10 Cases
ORPHACod
e
Disease
or Group of diseases
2435
Hypo- and hypermelanotic
cutaneous macules-retarded
growth-intellectual disability
syndrome
429
Hypochondroplasia
989
0.5 P*
10 Cases
2233
12.5 P*
2230
111
Cases
2235
35 Cases
13 Cases
293967
100
Cases
6 Cases
528105
0.2 P
24 Cases
3
Families
363523
238468
98813
9 Cases
1882
13 Cases
293964
28 Cases
681
100
Cases
1790
27 Cases
137639
50 Cases
2680
3 Cases
12 Cases
4
Families
139441
363412
447893
18 Cases
85163
Hypoglossia-hypodactyly
syndrome
Hypogonadism-mitral valve
prolapse-intellectual disability
syndrome
Hypogonadotropic
hypogonadism-frontoparietal
alopecia syndrome
Hypogonadotropic
hypogonadism-retinitis
pigmentosa syndrome
Hypogonadotropic
hypogonadism-severe
microcephaly-sensorineural
hearing loss-dysmorphism
syndrome
Hypohidrosis-electrolyte
imbalance-lacrimal gland
dysfunction-ichthyosisxerostomia syndrome
Hypohidrosis-enamel hypoplasiapalmoplantar keratodermaintellectual disability syndrome
Hypohidrotic ectodermal
dysplasia
Hypohidrotic ectodermal
dysplasia with immunodeficiency
Hypohidrotic ectodermal
dysplasia-hypothyroidism-ciliary
dyskinesia syndrome
Hypoinsulinemic hypoglycemia
and body hemihypertrophy
Hypokalemic periodic paralysis
Hypomandibular faciocranial
dysostosis
Hypomyelinating
leukodystrophy-ataxiahypodontia-hypomyelination
syndrome
Hypomyelination neuropathyarthrogryposis syndrome
Hypomyelination with atrophy of
basal ganglia and cerebellum
Hypomyelination with brain
stem and spinal cord
involvement and leg spasticity
Hypomyelination-cerebellar
atrophy-hypoplasia of the corpus
callosum syndrome
Hypomyelination-congenital
cataract syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
14 Cases
3.3 P*
47 Cases
2 Cases
6 Cases
2 Cases
4 Cases
22 Cases
12 Cases
6.7 P*
0.2 BP*
3 Cases
5 Cases
1.0 P*
3 Cases
8 Cases
9 Cases
19 Cases
13 Cases
4 Cases
10 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
46
ORPHACod
e
2237
324561
Disease
or Group of diseases
Hypoparathyroidismsensorineural deafness-renal
disease syndrome
Hypopigmentation-punctate
palmoplantar keratoderma
syndrome
722
Hypoplasminogenemia
2248
Hypoplastic left heart syndrome
2248
Hypoplastic left heart syndrome
293864
Hypoplastic pancreas-intestinal
atresia-hypoplastic gallbladder
syndrome
98723
2250
2261
137908
Hypoplastic right heart syndrome
Hyposmia-nasal and ocular
hypoplasia-hypogonadotropic
hypogonadism syndrome
Hypospadias-intellectual
disability, Goldblatt type
syndrome
Hypotonia with lactic acidemia
and hyperammonemia
163690
Hypotonia-cystinuria syndrome
79507
Hypotonia-failure to thrivemicrocephaly syndrome
55654
Hypotrichosis simplex
1573
330029
2266
69735
307936
Hypotrichosis with juvenile
macular degeneration
Hypotrichosis-deafness
syndrome
Hypotrichosis-intellectual
disability, Lopes type
Hypotrichosis-lymphedematelangiectasia-renal defect
syndrome
Hypotrichosis-osteolysisperiodontitis-palmoplantar
keratoderma syndrome
2268
ICF syndrome
477661
IL21-related infantile
inflammatory bowel disease
85173
IMAGe syndrome
209981
IRIDA syndrome
209943
IRVAN syndrome
352479
ISPD-related limb-girdle
muscular dystrophy R20
439254
ITM2B amyloidosis
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
180
Cases
6
Families
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
ORPHACod
e
Disease
or Group of diseases
457375
ITPA-related lethal infantile
neurological disorder with
cataract and cardiac involvement
2307
IVIC syndrome
4
Families
254509
Iatrogenic botulism
180
Cases
7 Cases
0.16 P*
18.0 BP
2273
15.1 BP*
79503
16 Cases
2269
3.3 BP*
2 Cases
2274
91132
3 Cases
2278
4 Cases
22 Cases
2272
Ichthyosis follicularis-alopeciaphotophobia syndrome
Ichthyosis hystrix of CurthMacklin
Ichthyosis-alopecia-eclabionectropion-intellectual disability
syndrome
Ichthyosis-hepatosplenomegalycerebellar degeneration
syndrome
Ichthyosis-hypotrichosis
syndrome
Ichthyosis-intellectual disabilitydwarfism-renal impairment
syndrome
Ichthyosis-oral and digital
anomalies syndrome
88621
Ichthyosis-prematurity syndrome
363992
Ichthyosis-short staturebrachydactylymicrospherophakia syndrome
930
Idiopathic achalasia
930
Idiopathic achalasia
724
Idiopathic acute eosinophilic
pneumonia
139423
Idiopathic acute transverse
myelitis
88
Idiopathic aplastic anemia
66 Cases
33208
Idiopathic hypersomnia
3 Cases
238624
Idiopathic intracranial
hypertension
28 Cases
45452
Idiopathic neonatal atrial flutter
75 Cases
494428
30 Cases
275766
8 Cases
2032
Idiopathic pulmonary fibrosis
2
Families
2032
Idiopathic pulmonary fibrosis
2 Cases
38 Cases
50 Cases
1 Case
2 Cases
4 Cases
2 Cases
Idiopathic pleuroparenchymal
fibroelastosis
Idiopathic pulmonary arterial
hypertension
40 Cases
10 Cases
4 Cases
2 Cases
11 Cases
4 Cases
2 Cases
16
Families
7 Cases
8.0 P
0.77 I
100
Cases
0.25 I*
0.4 P*
30.0 P*
14.0 P*
1.5 BP*
37 Cases
1.1 P*
11.5 P*
3.81 I*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
47
ORPHACod
e
99931
422
49041
238621
Disease
or Group of diseases
Idiopathic pulmonary
hemosiderosis
Idiopathic/heritable pulmonary
arterial hypertension
IgG4-related retroperitoneal
fibrosis
Ileal pouch anal anastomosis
related faecal incontinence
42062
Iminoglycinuria
42062
Iminoglycinuria
238569
529977
37042
3002
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.0425 I*
1.0 P*
0.35 I*
Immune thrombocytopenia
3002
Immune thrombocytopenia
206569
Immune-mediated necrotizing
myopathy
34592
Immunodeficiency by defective
expression of MHC class I
572
Immunodeficiency by defective
expression of MHC class II
6.68 P*
80 Cases
329903
2759
45453
52430
Inclusion body myositis
464
Incontinentia pigmenti
7 Cases
150
Cases
Infant acute respiratory distress
syndrome
Infant acute respiratory distress
syndrome
178478
Infant botulism
178478
Infant botulism
313850
402364
1313
Infantile digital fibromatosis
25.0 P*
238455
Infantile dystonia-parkinsonism
6.75 I*
352563
300
Cases
522077
30 Cases
179
Cases
2 Cases
1 Case
1 Case
49 Cases
35
Families
Immunodeficiency with factor I
anomaly
565788
456312
2591
Infantile myofibromatosis
35069
Infantile neuroaxonal dystrophy
251304
Infantile onset panniculitis with
uveitis and systemic
granulomatosis
3451
Infantile spasms syndrome
3451
Infantile spasms syndrome
3451
Infantile spasms syndrome
1.5 BP*
3173
263410
26
Families
3.5 I*
20.0 P*
0.2 BP*
0.3 I*
11 Cases
5 Cases
10 Cases
200
Cases
16 Cases
Infantile hypertrophic
cardiomyopathy due to MRPL44
deficiency
Infantile hypotonia-oculomotor
anomalies-hyperkinetic
movements-developmental
delay syndrome
Infantile inflammatory bowel
disease with neurological
involvement
Infantile multisystem neurologicendocrine-pancreatic disease
0.0 P
2 Cases
1.2 BP*
Infantile cerebellar-retinal
degeneration
Infantile cerebral and cerebellar
atrophy with postnatal
progressive microcephaly
Infantile choroidocerebral
calcification syndrome
199267
Immunodeficiency due to CD25
deficiency
Immunodeficiency due to MASP331187
2 deficiency
Immunodeficiency due to ficolin3
331190
deficiency
Immunodeficiency due to
70592 interleukin-1 receptor-associated
kinase-4 deficiency
Immunoglobulin-mediated
membranoproliferative
glomerulonephritis
Imperforate oropharynxcostovertebral anomalies
syndrome
Incessant infant ventricular
tachycardia
Inclusion body myopathy with
Paget disease of bone and
frontotemporal dementia
611
70587
6.67 BP*
169100
200418
Disease
or Group of diseases
70587
3.0 P*
Immune dysregulationinflammatory bowel diseasearthritis-recurrent infections
syndrome
Immune dysregulationinflammatory bowel diseasearthritis-recurrent infectionslymphopenia syndrome
Immune dysregulationpolyendocrinopathyenteropathy-X-linked syndrome
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.5 P*
Infantile spasms-broad thumbs
syndrome
Infantile spasms-psychomotor
retardation-progressive brain
atrophy-basal ganglia disease
syndrome
2 Cases
11 Cases
3 Cases
2 Cases
0.67 BP*
150
Cases
4 Cases
6.0 P*
3.7 BP
3.5 BP*
2 Cases
4 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
48
ORPHACod
e
Disease
or Group of diseases
1145
Infantile-onset X-linked spinal
muscular atrophy
293168
Infantile-onset ascending
hereditary spastic paralysis
457205
494526
391316
500062
572428
1186
529980
90003
Infantile-onset axonal motor and
sensory neuropathy-optic
atrophy-neurodegenerative
syndrome
Infantile-onset generalized
dyskinesia with orofacial
involvement
Infantile-onset mesial temporal
lobe epilepsy with severe
cognitive regression
Infantile-onset periodic feverpanniculitis-dermatosis
syndrome
Infantile-onset pulmonary
alveolar proteinosishypogammaglobulinemia
Infantile-onset spinocerebellar
ataxia
Inflammatory bowel diseaserecurrent sinopulmonary
infections syndrome
Inhalational botulism
210141
Inherited congenital spastic
tetraplegia
79361
Inherited epidermolysis bullosa
79361
Inherited epidermolysis bullosa
63259
Iniencephaly
411593
Insulin autoimmune syndrome
97279
Insulinoma
166108
3079
Intellectual disability syndrome
due to a DYRK1A point mutation
Intellectual disability, Birk-Barel
type
Intellectual disability, BuenosAires type
3080
Intellectual disability, Wolff type
529965
Intellectual disability-autismspeech apraxia-craniofacial
dysmorphism syndrome
ORPHACod
e
3041
17
Families
364577
2 Cases
508498
8 Cases
3042
171860
3 Cases
397709
5 Cases
329224
5 Cases
3454
29 Cases
1 Case
140
Cases
Inflammatory pseudotumor of
the liver
254504
464311
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
14
Families
3044
468620
436151
10 Cases
17 Cases
404440
1.9 BP*
370010
0.8 P*
369847
50.0 BP*
404
Cases
1495
0.25 I
314575
35 Cases
1 Family
457279
5 Cases
2 Cases
457365
5 Cases
3068
Disease
or Group of diseases
Intellectual disability-baldingpatella luxation-acromicria
syndrome
Intellectual disabilitybrachydactyly-Pierre Robin
syndrome
Intellectual disability-cardiac
anomalies-short stature-joint
laxity syndrome
Intellectual disability-cataractscalcified pinnae-myopathy
syndrome
Intellectual disability-cataractskyphosis syndrome
Intellectual disability-coarse
face-macrocephaly-cerebellar
hypotrophy syndrome
Intellectual disability-craniofacial
dysmorphism-cryptorchidism
syndrome
Intellectual disabilitydevelopmental delaycontractures syndrome
Intellectual disabilitydysmorphism-hypogonadismdiabetes mellitus syndrome
Intellectual disability-epilepsyextrapyramidal syndrome
Intellectual disability-expressive
aphasia-facial dysmorphism
syndrome
Intellectual disability-facial
dysmorphism syndrome due to
SETD5 haploinsufficiency
Intellectual disability-facial
dysmorphism-hand anomalies
syndrome
Intellectual disabilityhyperkinetic movement-truncal
ataxia syndrome
Intellectual disability-hypoplastic
corpus callosum-preauricular tag
syndrome
Intellectual disability-hypotoniabrachycephaly-pyloric stenosiscryptorchidism syndrome
Intellectual disabilitymacrocephaly-hypotoniabehavioral abnormalities
syndrome
Intellectual disability-muscle
weakness-short stature-facial
dysmorphism syndrome
Intellectual disability-myopathyshort stature-endocrine defect
syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3 Cases
4 Cases
18 Cases
13 Cases
3 Cases
30 Cases
2 Cases
5
Families
4 Cases
3 Cases
13 Cases
7 Cases
3 Cases
5 Cases
3 Cases
2 Cases
16 Cases
3 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
49
ORPHACod
e
352530
397973
3082
513456
369837
369950
391372
3074
1891
363528
508529
981
79099
182095
306504
314376
137622
424058
580572
508512
436144
329324
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Intellectual disability-obesitybrain malformations-facial
dysmorphism syndrome
Intellectual disability-obesityprognathism-eye and skin
anomalies syndrome
Intellectual disabilitypolydactyly-uncombable hair
syndrome
Intellectual disability-seizuresabnormal gait-facial
dysmorphism syndrome
Intellectual disability-seizureshypophosphatasia-ophthalmicskeletal anomalies syndrome
Intellectual disability-seizuresmacrocephaly-obesity syndrome
Intellectual disability-severe
speech delay-mild dysmorphism
syndrome
Intellectual disability-short
stature-hypertelorism syndrome
Intellectual disability-spasticityectrodactyly syndrome
Intellectual disability-strabismus
syndrome
Intermediate epidermolysis
bullosa simplex with
cardiomyopathy
2 Cases
2 Cases
217
2 Cases
217
15 Cases
Isolated Klippel-Feil syndrome
2345
Isolated Klippel-Feil syndrome
718
Isolated Pierre Robin syndrome
229717
Isolated agammaglobulinemia
48 Cases
1048
Isolated
anencephaly/exencephaly
6 Cases
250923
Isolated aniridia
3 Cases
3387
Isolated anterior cervical
hypertrichosis
34 Cases
1134
Isolated arrhinia
14 Cases
199326
Isolated autosomal dominant
hypomagnesemia, Glaudemans
type
100
Cases
30391
Isolated biliary atresia
30391
Isolated biliary atresia
2343
Isolated cloverleaf skull
syndrome
79143
Isolated congenital anonychia
88620
Isolated congenital anosmia
16 Cases
91396
Isolated cryptophthalmia
3 Cases
1885
Isolated ectopia lentis
0.011 I*
93928
Isolated epispadias
0.0 I
448264
4 Cases
7 Cases
Interstitial granulomatous
dermatitis with arthritis
Interstitial lung diseasenephrotic syndromeepidermolysis bullosa syndrome
Intestinal obstruction in the
newborn due to guanylate
cyclase 2C deficiency
Intractable diarrhea-choanal
atresia-eye anomalies syndrome
Intraductal papillary mucinous
carcinoma of pancreas
Intraductal tubulopapillary
neoplasm of pancreas
Intrauterine growth restrictioncongenital multiple café-au-lait
macules-increased sister
chromatid exchange syndrome
Intrauterine growth restrictionshort stature-early adult-onset
diabetes syndrome
Inverse Klippel-Trénaunay
syndrome
Isolated Dandy-Walker
malformation
Isolated Dandy-Walker
malformation
2345
Internal carotid absence
Interstitial lung disease
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Inverted duplicated chromosome
3.33 BP
3306
15 syndrome
150
84142
Isaac syndrome
Cases
1.0 BP*
2.1 P*
2.0 P*
0.6 BP*
5.0 BP*
0.3 P
35.0 BP*
1.31 I*
20 Cases
20 Cases
21 Cases
2.9 BP*
18.5 BP
53 Cases
5.4 I*
3 Cases
468666
2 Cases
15 Cases
15 Cases
120
Cases
50 Cases
15 Cases
30 Cases
90 Cases
2.4 BP*
Isolated focal non-epidermolytic
palmoplantar keratoderma
Isolated generalized anhidrosis
with normal sweat glands
306527
Isolated hereditary congenital
facial paralysis
542657
Isolated hyperchlorhidrosis
583861
Isolated mesenteric vein
thrombosis
2 Cases
7 Cases
8
Families
13 Cases
1.6 I*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
50
ORPHACod
e
480556
99885
Disease
or Group of diseases
Isolated neonatal sclerosing
cholangitis
Isolated permanent neonatal
diabetes mellitus
35098
Isolated plagiocephaly
2924
Isolated polycystic liver disease
440713
Isolated sedoheptulokinase
deficiency
823
457083
2440
3208
99731
454750
Isolated spina bifida
Isolated split hand-split foot
malformation
Isolated succinate-CoQ reductase
deficiency
Isolated sulfite oxidase
deficiency
Isolated tracheoesophageal
fistula
Isolated trigonocephaly
2306
Isotretinoin-like syndrome
33
Isovaleric acidemia
1540
Jackson-Weiss syndrome
1873
Jalili syndrome
79139
Japanese encephalitis
313795
Jawad syndrome
90647
Jervell and Lange-Nielsen
syndrome
474
Jeune syndrome
2315
Johanson-Blizzard syndrome
140874
397715
1454
2318
2319
0.38 BP*
3.0 BP
Joubert syndrome
Joubert syndrome and related
disorders
Joubert syndrome with Jeune
asphyxiating thoracic dystrophy
Joubert syndrome with hepatic
defect
Joubert syndrome with
oculorenal defect
Juberg-Hayward syndrome
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Junctional epidermolysis bullosa
9 Cases
79405
inversa
100
Junctional epidermolysis bullosa
79403
Cases
with pyloric atresia
2321
Jung syndrome
248111
Juvenile Huntington disease
248111
Juvenile Huntington disease
2801
Juvenile Paget disease
1941
Juvenile absence epilepsy
247794
Juvenile cataract-microcornearenal glucosuria syndrome
93672
Juvenile dermatomyositis
2028
Juvenile hyaline fibromatosis
92
Juvenile idiopathic arthritis
92
Juvenile idiopathic arthritis
92
Juvenile idiopathic arthritis
86834
Juvenile myelomonocytic
leukemia
79076
Juvenile polyposis of infancy
2929
Juvenile polyposis syndrome
247604
Juvenile primary lateral sclerosis
26137
Juvenile temporal arteritis
445062
Juvenile-onset diabetes mellituscentral and peripheral
neurodegeneration syndrome
2332
KBG syndrome
439218
KCNQ2-related epileptic
encephalopathy
85279
KDM5C-related syndromic Xlinked intellectual disability
8 Cases
477
KID syndrome
17 Cases
399081
KLHL9-related early-onset distal
myopathy
13 Cases
2322
Kabuki syndrome
254519
Kagami-Ogata syndrome
1.0 P*
2 Cases
18.6 BP*
145
Cases
Isolated splenogonadal fusion
3366
475
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4 Cases
5.4 BP*
37 Cases
50 Cases
2.2 BP
6.7 BP*
6 Cases
1.0 P*
200
Cases
49 Cases
0.65 I*
4 Cases
0.3 P
2 Cases
0.04 I*
0.6 P*
50 Cases
7.5 I*
12 Cases
0.295 I
70 Cases
1.5 I*
7.8 I
20.5 P
0.1 P*
11 Cases
3.85 I*
4 Cases
20 Cases
5 Cases
1.4 BP*
164
Cases
0.4 BP*
1.125 BP
1.1 BP
8 Cases
11
Families
10
Families
100
Cases
10 Cases
3.1 P*
84 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
51
ORPHACod
e
254534
254528
96334
Disease
or Group of diseases
Kagami-Ogata syndrome due to
maternal 14q32.2
hypermethylation
Kagami-Ogata syndrome due to
maternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to
paternal uniparental disomy of
chromosome 14
478
Kallmann syndrome
2326
Kallmann syndrome-heart
disease syndrome
33276
33276
2328
Kaposi sarcoma
Kaposi sarcoma
Karsch-Neugebauer syndrome
401996
Karyomegalic interstitial
nephritis
2330
Kasabach-Merritt syndrome
480
Kearns-Sayre syndrome
Keipert syndrome
2333
Kenny-Caffey syndrome
435628
Keppen-Lubinsky syndrome
494
79395
2339
86919
293807
438075
Keratoderma hereditarium
mutilans
Keratoderma hereditarium
mutilans with ichthyosis
Keratosis follicularis-dwarfismcerebral atrophy syndrome
Keratosis palmaris et plantarisclinodactyly syndrome
Ketamine-induced biliary
dilatation
Ketoacidosis due to
monocarboxylate transporter-1
deficiency
ORPHACod
e
Disease
or Group of diseases
7 Cases
99741
King-Denborough syndrome
8 Cases
261494
Kleefstra syndrome
37 Cases
96147
261652
3.75 P*
8 Cases
447974
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
18 Cases
114
Cases
Kleefstra syndrome due to 9q34
microdeletion
Kleefstra syndrome due to a
point mutation
Klippel-Feil anomaly-myopathyfacial dysmorphism syndrome
86 Cases
23 Cases
2 Cases
0.007 P*
90308
Klippel-Trénaunay syndrome
363965
Koolen-De Vries syndrome due
to a point mutation
477831
Kosaki overgrowth syndrome
99749
Kostmann syndrome
2351
Kousseff syndrome
487
Krabbe disease
487
Krabbe disease
487
Krabbe disease
12 Cases
306674
Kufor-Rakeb syndrome
65 Cases
454745
Kuru
2700
Cases
1149
Kuskokwim syndrome
8
Families
0.34 I*
2.11
6 Cases
Kapur-Toriello syndrome
2329
2662
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
11 Cases
12
Families
300
Cases
2.0 P*
4 Cases
2 Cases
45 Cases
8 Cases
1.0 P*
1.0 BP*
0.7 BP
16 Cases
3 Cases
50 Cases
50 Cases
496689
6 Cases
300179
20 Cases
Kyphoscoliosis-lateral tongue
atrophy-hereditary spastic
paraplegia syndrome
Kyphoscoliotic Ehlers-Danlos
syndrome due to FKBP22
deficiency
Kyphoscoliotic Ehlers-Danlos
syndrome due to lysyl
hydroxylase 1 deficiency
Kyphosis-lateral tongue atrophymyofibrillar myopathy syndrome
2 Cases
1900
9 Cases
496686
30 Cases
79314
L-2-hydroxyglutaric aciduria
35704
L-Arginine:glycine
amidinotransferase deficiency
440731
L-ferritin deficiency
521450
LAMA5-related multisystemic
syndrome
650
LCAT deficiency
85202
Keutel syndrome
50918
Kikuchi-Fujimoto disease
1052
Cases
482
Kimura disease
300
Cases
2908
Kindler epidermolysis bullosa
250
Cases
12 Cases
9 Cases
1.0 BP
3 Cases
140
Cases
9 Cases
2 Cases
11 Cases
125
Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
52
ORPHACod
e
Disease
or Group of diseases
99812
LIG4 syndrome
466801
435660
363618
83628
LIMS2-related limb-girdle
muscular dystrophy
LIPE-related familial partial
lipodystrophy
LMNA-related cardiocutaneous
progeria syndrome
Lacrimoauriculodentodigital
syndrome
501
Lafora disease
1296
43393
43393
Lambert-Eaton myasthenic
syndrome
Lambert-Eaton myasthenic
syndrome
258
Laminin subunit alpha 2-related
congenital muscular dystrophy
2632
Langer mesomelic dysplasia
389
Langerhans cell histiocytosis
626
Large congenital melanocytic
nevus
633
Laron syndrome
220465
Laron syndrome with
immunodeficiency
503
Larsen syndrome
2808
2375
2407
2004
93940
93941
98912
Late-onset distal myopathy,
Markesbery-Griggs type
228227
Late-onset focal dermal elastosis
79406
54 Cases
100
Cases
300
Cases
70 Cases
4 Cases
1.0 P*
0.3 P*
100
Cases
1.5 P*
2.75 P*
0.3 P*
10 Cases
0.4 BP*
3 Cases
14 Cases
9 Cases
Laryngeal abductor paralysisintellectual disability syndrome
Laryngo-onycho-cutaneous
syndrome
Lateral meningocele syndrome
46059
Lathosterolosis
2378
Laurin-Sandrow syndrome
330015
Lead poisoning
65
Leber congenital amaurosis
65
Leber congenital amaurosis
104
0.55 P*
20 Cases
50 Cases
7.5 BP*
30 Cases
20 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
11 Cases
5 Cases
Late-onset junctional
epidermolysis bullosa
Late-onset localized junctional
epidermolysis bullosaintellectual disability syndrome
2789
104
0.35 P
Laryngeal abductor paralysis
Laryngotracheoesophageal cleft
type 3
Laryngotracheoesophageal cleft
type 4
Disease
or Group of diseases
231556
Larsen-like osseous dysplasiashort stature syndrome
Larsen-like syndrome, B3GAT3
type
Laryngotracheoesophageal cleft
ORPHACod
e
5 Cases
Lambert syndrome
Lamellar ichthyosis
284139
4 Cases
Lamb-Shaffer syndrome
313
2370
2 Cases
LUMBAR syndrome
2363
530983
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
28 Cases
Leber hereditary optic
neuropathy
Leber hereditary optic
neuropathy
99718
Leber plus disease
549
Legionnaires disease
137605
Legius syndrome
506
Leigh syndrome
506
Leigh syndrome
507
Leishmaniasis
507
Leishmaniasis
140936
Lelis syndrome
137839
Lemierre syndrome
2382
Lennox-Gastaut syndrome
2382
Lennox-Gastaut syndrome
2658
Lenz-Majewski hyperostotic
dwarfism
548
Leprosy
509
Leptospirosis
510
Lesch-Nyhan syndrome
2347
Lethal Kniest-like dysplasia
37 Cases
2 Cases
14 Cases
4 Cases
14 Cases
2.3 P*
2.5 BP
2.5 P
4.3 P
2.3 P*
0.04 P*
1.4 I*
2.2 BP
2.8 BP*
2.0 P*
0.1 P*
25.0 I
9 Cases
10.0 I*
0.1 I*
15.0 P*
10 Cases
3.7 I
0.12 I*
0.34 BP*
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
53
ORPHACod
e
Disease
or Group of diseases
2371
Lethal Larsen-like syndrome
158687
314718
1187
580933
137776
137783
1972
444069
439897
1046
480528
2570
478049
33108
435845
293925
2736
1832
210144
1423
2968
99842
99843
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
8 Cases
Lethal acantholytic erosive
disorder
Lethal arteriopathy syndrome
due to fibulin-4 deficiency
4 Cases
22 Cases
4
Families
Lethal ataxia with deafness and
optic atrophy
Lethal brain and heart
developmental defects
Lethal congenital contracture
syndrome type 2
Lethal congenital contracture
syndrome type 3
4 Cases
1 Family
14 Cases
3 Cases
Lethal faciocardiomelic dysplasia
Lethal fetal brain malformationduodenal atresia-bilateral renal
hypoplasia syndrome
Lethal fetal
cerebrorenogenitourinary
agenesis/hypoplasia syndrome
Lethal hemolytic anemia-genital
anomalies syndrome
Lethal hydranencephalydiaphragmatic hernia syndrome
Lethal intrauterine growth
restriction-cortical
malformation-congenital
contractures syndrome
Lethal left ventricular noncompaction-seizures-hypotoniacataract-developmental delay
syndrome
4 Cases
2 Cases
2 Cases
2 Cases
4 Cases
4 Cases
Lethal neonatal spasticityepileptic encephalopathy
syndrome
Lethal occipital encephaloceleskeletal dysplasia syndrome
Lethal omphalocele-cleft palate
syndrome
Lethal osteosclerotic bone
dysplasia
Lethal polymalformative
syndrome, Boissel type
Lethal recessive
chondrodysplasia
Lhermitte-Duclos disease
220
Cases
525
Lichen planopilaris
300
Cases
5 Cases
254478
Lichen planus pemphigoides
100
Cases
5 Cases
2390
Lichtenstein syndrome
526
Liddle syndrome
263
Limb-girdle muscular dystrophy
445110
Limb-girdle muscular dystrophy
due to POMK deficiency
69085
Limb-mammary syndrome
171673
Limbal stem cell deficiency
329341
Limbic encephalitis with DPP6
antibodies
8 Cases
40 Cases
10 Cases
4 Cases
350
Cases
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency
type I
Leukocyte adhesion deficiency
type II
65285
28
Families
Lethal multiple pterygium
syndrome
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Leukocyte adhesion deficiency
40 Cases
99844
type III
Leukoencephalopathy with
29 Cases
139444 bilateral anterior temporal lobe
cysts
Leukoencephalopathy with brain
127
stem and spinal cord
137898
Cases
involvement-high lactate
syndrome
Leukoencephalopathy with
50 Cases
542310
calcifications and cysts
Leukoencephalopathy with mild
6 Cases
363540
cerebellar ataxia and white
matter edema
Leukoencephalopathy-dystonia2 Cases
163684
motor neuropathy syndrome
Leukoencephalopathy4 Cases
2386
palmoplantar keratoderma
syndrome
Leukoencephalopathy11 Cases
83629
spondyloepimetaphyseal
dysplasia syndrome
Leukoencephalopathy-thalamus
14 Cases
314051
and brainstem anomalies-high
lactate syndrome
Leukomelanoderma-infantilismintellectual disability4 Cases
1816
hypodontia-hypotrichosis
syndrome
Leukonychia totalis-acanthosis11 Cases
210133 nigricans-like lesions-abnormal
hair syndrome
0.9 P*
48162
Lewis-Sumner syndrome
0.1 P*
7 Cases
2 Cases
72
Families
2.32 P
2 Cases
38 Cases
20.0 P*
4 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
54
ORPHACod
e
Disease
or Group of diseases
498700
Limbic encephalitis with
neurexin-3 antibodies
220407
Limited systemic sclerosis
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
5 Cases
ORPHACod
e
90398
200
Cases
90399
140933
228236
589608
1979
50811
401859
30 Cases
Linear atrophoderma of Moulin
30 Cases
Linear focal elastosis
Linear hypopigmentation and
craniofacial asymmetry with
acral, ocular and brain anomalies
Lipodystrophy due to peptidic
growth factors deficiency
Lipodystrophy-intellectual
disability-deafness syndrome
7 Cases
1 Family
3 Cases
3 Cases
Lipoic acid synthetase deficiency
530
Lipoid proteinosis
500
Cases
329481
Lipoprotein glomerulopathy
150
Cases
69078
Liposarcoma
401862
Lipoyl transferase 1 deficiency
98955
171680
86821
86822
100012
100013
36 Cases
Lissencephaly due to TUBA1A
mutation
Lissencephaly type 3-familial
fetal akinesia sequence
syndrome
Lissencephaly type 3-metacarpal
bone dysplasia syndrome
Lissencephaly with cerebellar
hypoplasia type B
Lissencephaly with cerebellar
hypoplasia type C
Listeriosis
533
Listeriosis
158673
Localized dystrophic
epidermolysis bullosa, acral form
158676
Localized dystrophic
epidermolysis bullosa, nails only
251393
4 Cases
Lisch epithelial corneal dystrophy
533
79410
1.0 I*
Localized dystrophic
epidermolysis bullosa, pretibial
form
Localized junctional
epidermolysis bullosa
15 Cases
5 Cases
2 Cases
50 Cases
2 Cases
0.43 I*
0.337 I
10
Families
10
Families
40
Families
20 Cases
Disease
or Group of diseases
Localized lichen myxedematosus
with mixed features of different
subtypes
Localized lichen myxedematosus
with monoclonal gammopathy or
systemic symptoms
2406
Locked-in syndrome
60030
Loeys-Dietz syndrome
5
5
2408
2487
276435
Long chain 3-hydroxyacyl-CoA
dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA
dehydrogenase deficiency
2409
Lowry-MacLean syndrome
1824
Lowry-Wood syndrome
Lupus erythematosus tumidus
91546
Lyme disease
91546
Lyme disease
538
Lymphangioleiomyomatosis
538
Lymphangioleiomyomatosis
538
Lymphangioleiomyomatosis
86914
99141
33 Cases
52
Families
1.0 BP*
8.0 P*
1 Family
2 Cases
55 Cases
12 Cases
3 Cases
8 Cases
Lung agenesis-heart defectthumb anomalies syndrome
Lung fibrosis-immunodeficiency46,XX gonadal dysgenesis
syndrome
90283
86915
5 Cases
Lower limb malformationhypospadias syndrome
Lower motor neuron syndrome
with late-adult onset
Lown-Ganong-Levine syndrome
137631
10 Cases
Lowe-Kohn-Cohen syndrome
844
1120
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
9 Cases
2 Cases
250
Cases
177.5 I*
21.9 I
0.0135 I
0.25 P*
0.15 P
Lymphedema-atrial septal
defects-facial changes syndrome
Lymphedema-cerebral
arteriovenous anomaly
syndrome
Lymphedema-posterior choanal
atresia syndrome
275761
Lysosomal acid lipase deficiency
398069
MAGEL2-related Prader-Willi-like
syndrome
324972
MAGIC syndrome
5 Cases
5 Cases
6 Cases
2.0 P*
28 Cases
21 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
55
ORPHACod
e
Disease
or Group of diseases
52417
MALT lymphoma
52417
MALT lymphoma
397941
MAN1B1-CDG
171851
MEDNIK syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.3 I*
4.0 P*
ORPHACod
e
397612
210548
25 Cases
466791
5
Families
457485
352328
85282
MELAS
401973
MEND syndrome
508093
MEPAN syndrome
485421
MFF-related encephalopathy due
to mitochondrial and
peroxisomal fission defect
79329
MGAT2-CDG
293822
497757
2563
MOMO syndrome
79323
MPDU1-CDG
79319
MPI-CDG
263347
MRCS syndrome
320360
498693
437572
MYH9-related disease
480491
MYO5B-related progressive
familial intrahepatic cholestasis
83619
7 Cases
220448
487796
13 Cases
19 Cases
91494
Macrocephaly-developmental
delay syndrome
Macrocephaly-intellectual
disability-autism syndrome
Macrocephaly-intellectual
disability-left ventricular non
compaction syndrome
Macrocephaly-intellectual
disability-neurodevelopmental
disorder-small thorax syndrome
Macrocephaly-short statureparaplegia syndrome
Macrosomia-microphthalmiacleft palate syndrome
Macrostomia-preauricular tagsexternal ophthalmoplegia
syndrome
Macrothrombocytopenia with
mitral valve insufficiency
Macrothrombocytopenialymphedema-developmental
delay-facial dysmorphismcamptodactyly syndrome
Macular coloboma-cleft palatehallux valgus syndrome
40 Cases
6 Cases
8 Cases
2 Cases
5 Cases
9 Cases
2 Cases
2 Cases
2 Cases
137867
Madras motor neuron disease
200
Cases
163634
Maffucci syndrome
250
Cases
3 Cases
77297
Majeed syndrome
4
Families
8 Cases
87503
Mal de Meleda
8 Cases
420179
Malan overgrowth syndrome
25 Cases
673
Malaria
7 Cases
673
Malaria
4 Cases
673
Malaria
30
Families
19 Cases
MSH3-related attenuated
familial adenomatous polyposis
MT-ATP6-related mitochondrial
spastic paraplegia
MYBPC1-related autosomal
recessive non-lethal
arthrogryposis multiplex
congenita syndrome
MYH7-related late-onset
scapuloperoneal muscular
dystrophy
182050
24 Cases
4 Cases
MITF-related melanoma and
renal cell carcinoma
predisposition syndrome
MME-related autosomal
dominant Charcot Marie Tooth
disease type 2
MOGS-CDG
2427
2432
0.6 P*
MIRAGE syndrome
79330
480536
22 Cases
MEHMO syndrome
550
494433
67 Cases
MEGDEL syndrome
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
9 Cases
5 Cases
2234
4 Cases
99915
12 Cases
0.3 P*
679
99912
5 Cases
398934
Male hypergonadotropic
hypogonadism-intellectual
disability-skeletal anomalies
syndrome
Maligant granulosa cell tumor of
the ovary
1.0 P
20 Cases
73.0 I
1.2 I*
3.0 P*
2 Cases
0.12 I*
200
Cases
Malignant atrophic papulosis
Malignant dysgerminomatous
germ cell tumor of the ovary
Malignant epithelial tumor of
ovary
0.04 I*
9.39 I*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
56
ORPHACod
e
276145
35807
35807
168999
168999
293181
213512
398940
3148
35808
35808
Disease
or Group of diseases
Malignant epithelial tumor of
salivary glands
Malignant germ cell tumor of
ovary
Malignant germ cell tumor of
ovary
Malignant melanoma of the
mucosa
Malignant melanoma of the
mucosa
Malignant mixed Müllerian
tumor of the ovary
Malignant non-epithelial tumor
of ovary
Malignant peripheral nerve
sheath tumor
Malignant sex cord stromal
tumor of ovary
Malignant sex cord stromal
tumor of ovary
Malignant teratoma of ovary
252212
Malignant triton tumor
180242
Malignant tumor of fallopian
tubes
398043
Malignant tumor of penis
943
Malonic aciduria
238744
Mammary-digital-nail syndrome
363649
Mandibular hypoplasia-deafnessprogeroid features-lipodystrophy
syndrome
443995
357158
79113
52416
511
99826
2.3
0.26 I*
1.5
114
Cases
Marchiafava-Bignami disease
2461
Marden-Walker syndrome
558
Marfan syndrome
558
Marfan syndrome
558
Marfan syndrome
50 Cases
25.0 I*
20.0 P*
15.0 P
Marfanoid habitus-autosomal
recessive intellectual disability
syndrome
Marfanoid habitus-inguinal
hernia-advanced bone age
syndrome
Marfanoid syndrome, De Silva
type
0.43 I*
314041
1.0 I
2464
1.85 P*
300912
Marginal zone lymphoma
0.13 I*
300912
Marginal zone lymphoma
559
Marinesco-Sjögren syndrome
560
Marshall syndrome
1.0 P*
561
Marshall-Smith syndrome
1.075 I*
466718
Martinique crinkled retinal
pigment epitheliopathy
34 Cases
98292
Mastocytosis
11 Cases
98292
Mastocytosis
21 Cases
2209
Maternal phenylketonuria
411712
Maternal riboflavin deficiency
4 Cases
2 Cases
6 Cases
7.0 P*
0.3 I*
200
Cases
0.07 I*
170
Cases
40 Cases
4 Cases
97678
96186
2 Cases
96187
107
Cases
Mandibulofacial dysostosismicrocephaly syndrome
Marburg hemorrhagic fever
221074
0.12 I*
Mandibulofacial dysostosis with
alopecia
Mandibulofacial dysostosismacroblepharon-macrostomia
syndrome
Maple syrup urine disease
Disease
or Group of diseases
2463
Mandibuloacral dysplasia
Mantle cell lymphoma
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
250
Cases
0.08 I*
Malignant migrating focal
seizures of infancy
398987
2457
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.73 I*
96188
96181
3.5 P*
225
0.67 BP
500
Cases
Maternal uniparental disomy of
chromosome 13
Maternal uniparental disomy of
chromosome 20
Maternal uniparental disomy of
chromosome 21
Maternal uniparental disomy of
chromosome 22
Maternal uniparental disomy of
chromosome 6
Maternally-inherited diabetes
and deafness
2470
Matthew-Wood syndrome
3109
Mayer-Rokitansky-Küster-Hauser
syndrome
17 Cases
33 Cases
14 Cases
3.0 P*
10.0 P
10.0 I*
2 Cases
3 Cases
12 Cases
2 Cases
4 Cases
15 Cases
0.1 P*
43 Cases
11.0 BP
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
57
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Mayer-Rokitansky-Küster-Hauser
1.0 BP*
2578
syndrome type 2
54 Cases
57782
Mazabraud syndrome
562
McCune-Albright syndrome
2471
McDonough syndrome
2473
59306
3097
Meckel syndrome
564
Meckel syndrome
70588
Meconium aspiration syndrome
57196
Medial condensing osteitis of the
clavicle
2006
Median cleft lip/mandibule
2699
Median nodule of the upper lip
370127
Medich giant platelet syndrome
42
Medium chain acyl-CoA
dehydrogenase deficiency
Medium chain acyl-CoA
dehydrogenase deficiency
1332
Medullary thyroid carcinoma
1332
Medullary thyroid carcinoma
616
Medulloblastoma
616
Medulloblastoma
98954
Meesmann corneal dystrophy
280671
Megaconial congenital muscular
dystrophy
2241
Megacystis-microcolon-intestinal
hypoperistalsis syndrome
2478
60040
90 Cases
100
Cases
Megalencephalic
leukoencephalopathy with
subcortical cysts
Megalencephaly-capillary
malformation-polymicrogyria
syndrome
4.0 BP
2484
Melnick-Needles syndrome
2485
Melorheostosis
1879
Melorheostosis with
osteopoikilosis
2.6 BP*
319547
58 Cases
70 Cases
319558
4
Families
319552
3 Cases
319563
12.0 BP*
319600
6.85 P
5.0 P*
Megalencephaly-polymicrogyriapostaxial polydactylyhydrocephalus syndrome
Megalencephaly-severe
kyphoscoliosis-overgrowth
syndrome
Melhem-Fahl syndrome
99898
2.44 P*
Disease
or Group of diseases
2482
13 Cases
Meacham syndrome
564
42
2
Families
McLeod neuroacanthocytosis
syndrome
83473
457359
0.55 P*
McKusick-Kaufman syndrome
ORPHACod
e
319595
0.22 I*
Menke-Hennekam syndrome
565
Menkes disease
498251
Menstrual cycle-dependent
periodic fever
157801
Mesoaxial synostotic syndactyly
with phalangeal reduction
2496
Mesomelia-synostoses syndrome
2631
Mesomelic dwarfism-cleft
palate-camptodactyly syndrome
1836
Mesomelic dysplasia, Kantaputra
type
2499
Metachondromatosis
512
Metachromatic leukodystrophy
0.11 I*
250
Cases
62 Cases
2 Cases
2 Cases
70 Cases
0.09 P*
5
Families
Mendelian susceptibility to
mycobacterial diseases due to
complete IFNgammaR1
deficiency
Mendelian susceptibility to
mycobacterial diseases due to
complete IFNgammaR2
deficiency
Mendelian susceptibility to
mycobacterial diseases due to
complete IL12B deficiency
Mendelian susceptibility to
mycobacterial diseases due to
complete IL12RB1 deficiency
Mendelian susceptibility to
mycobacterial diseases due to
complete ISG15 deficiency
Mendelian susceptibility to
mycobacterial diseases due to
partial IRF8 deficiency
Mendelian susceptibility to
mycobacterial diseases due to
partial STAT1 deficiency
592574
1.0 P*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
31 Cases
13 Cases
49 Cases
180
Cases
6 Cases
2 Cases
17 Cases
27 Cases
0.33 BP*
5 Cases
6
Families
19 Cases
230
Cases
100
Cases
170
Cases
10 Cases
2 Cases
5
Families
25 Cases
1.47 BP*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
58
ORPHACod
e
Disease
or Group of diseases
512
Metachromatic leukodystrophy
1240
Metaphyseal
acroscyphodysplasia
1040
33067
166038
2501
2502
2504
213531
2635
2635
Metaphyseal chondrodysplasia,
Jansen type
Metaphyseal chondrodysplasia,
Kaitila type
Metaphyseal chondrodysplasia,
Spahr type
Metaphyseal dysostosisintellectual disability-conductive
deafness syndrome
Metaphyseal dysplasia-maxillary
hypoplasia-brachydacty
syndrome
Metaplastic carcinoma of the
breast
Methimazole embryofetopathy
565782
Methotrexate toxicity
2170
308425
Methylcobalamin deficiency type
cblE
Methylcobalamin deficiency type
cblG
Methylmalonic acidemia due to
methylmalonyl-CoA epimerase
deficiency
26
Methylmalonic acidemia with
homocystinuria
79284
Methylmalonic acidemia with
homocystinuria type cblF
79282
79283
369955
369962
280183
502430
27 Cases
Methylmalonic acidemia with
homocystinuria, type cblC
Methylmalonic acidemia with
homocystinuria, type cblD
Methylmalonic acidemia with
homocystinuria, type cblJ
Methylmalonic acidemia with
homocystinuria, type cblX
Methylmalonic aciduria due to
transcobalamin receptor defect
Metopic ridging-ptosis-facial
dysmorphism syndrome
309025
Mevalonate kinase deficiency
29
Mevalonic aciduria
Disease
or Group of diseases
2510
Micro syndrome
2511
16 Cases
468631
2 Cases
85172
18 Cases
2637
3 Cases
2636
2
Families
329228
0.06 I*
81 Cases
Metatropic dysplasia
Metatropic dysplasia
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
203
Cases
4 Cases
Metaphyseal anadysplasia
1923
2169
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.1 P*
319675
2617
0.2 BP*
40 Cases
2643
436182
3.0 P*
27 Cases
2513
33 Cases
3433
7 Cases
2523
500
Cases
294016
15 Cases
500
Cases
2516
2515
329332
17 Cases
2 Cases
18 Cases
5 Cases
2522
2521
423894
8 Cases
300
Cases
488168
Microbrachycephaly-ptosis-cleft
lip syndrome
Microcephalic cortical
malformations-short stature due
to RTTN deficiency
Microcephalic osteodysplastic
dysplasia, Saul-Wilson type
Microcephalic osteodysplastic
primordial dwarfism type II
Microcephalic osteodysplastic
primordial dwarfism types I and
III
Microcephalic primordial
dwarfism due to ZNF335
deficiency
Microcephalic primordial
dwarfism, Dauber type
Microcephalic primordial
dwarfism, Montreal type
Microcephalic primordial
dwarfism, Toriello type
Microcephalic primordial
dwarfism-insulin resistance
syndrome
Microcephaly-albinism-digital
anomalies syndrome
Microcephaly-brachydactylykyphoscoliosis syndrome
Microcephaly-brain defectspasticity-hypernatremia
syndrome
Microcephaly-capillary
malformation syndrome
Microcephaly-cardiac defect-lung
malsegmentation syndrome
Microcephaly-cardiomyopathy
syndrome
Microcephaly-cerebellar
hypoplasia-cardiac conduction
defect syndrome
Microcephaly-cervical spine
fusion anomalies syndrome
Microcephaly-cleft palateabnormal retinal pigmentation
syndrome
Microcephaly-complex motor
and sensory axonal neuropathy
syndrome
Microcephaly-congenital
cataract-psoriasiform dermatitis
syndrome
2 Cases
28 Cases
4 Cases
150
Cases
53 Cases
10 Cases
2 Cases
3 Cases
2 Cases
2 Cases
2 Cases
3 Cases
3 Cases
10 Cases
3 Cases
3 Cases
4 Cases
2 Cases
3 Cases
3 Cases
5 Cases
30 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
59
ORPHACod
e
500159
457284
2533
521445
217026
2172
457351
2526
2528
572768
171703
2519
423306
572773
397951
2536
369970
231736
83642
217377
Disease
or Group of diseases
Microcephaly-corpus callosum
and cerebellar vermis
hypoplasia-facial dysmorphismintellectual disability syndrom
Microcephaly-corpus callosum
hypoplasia-intellectual disabilityfacial dysmorphism syndrome
Microcephaly-deafnessintellectual disability syndrome
Microcephaly-facial
dysmorphism-ocular anomaliesmultiple congenital anomalies
syndrome
Microcephaly-facio-cardioskeletal syndrome,
Hadziselimovic type
Microcephalyglomerulonephritis-marfanoid
habitus syndrome
Microcephaly-intellectual
disability-sensorineural hearing
loss-epilepsy-abnormal muscle
tone syndrome
Microcephaly-lymphedemachorioretinopathy syndrome
Microcephaly-microcornea
syndrome, Seemanova type
Microcephaly-micromelia
syndrome
Microcephaly-polymicrogyriacorpus callosum agenesis
syndrome
Microcephaly-seizuresintellectual disability-heart
disease syndrome
Microcephaly-short statureintellectual disability-facial
dysmorphism syndrome
Microcephaly-short stature-limb
abnormalities syndrome
Microcephaly-thin corpus
callosum-intellectual disability
syndrome
Microcornea-glaucoma-absent
frontal sinuses syndrome
Microcornea-myopic
chorioretinal atrophytelecanthus syndrome
Microcornea-posterior
megalolenticonus-persistent
fetal vasculature-coloboma
syndrome
Microcytic anemia with liver iron
overload
Microduplication Xp11.22p11.23
syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4 Cases
ORPHACod
e
2538
476126
5 Cases
2 Cases
50810
Microphthalmia with brain and
digit anomalies
1106
Microphthalmia with limb
anomalies
5 Cases
2556
98555
77299
14 Cases
Microgastria-limb reduction
defect syndrome
Micrognathia-recurrent
infections-behavioral
abnormalities-mild intellectual
disability syndrome
Microlissencephaly-micromelia
syndrome
139471
10 Cases
2 Cases
Disease
or Group of diseases
2547
Microphthalmia with linear skin
defects syndrome
Microphthalmia-anophthalmiacoloboma
Microphthalmia-brain atrophy
syndrome
Microphthalmia-microtia-fetal
akinesia syndrome
Microphthalmia-retinitis
pigmentosa-foveoschisis-optic
disc drusen syndrome
50
Families
251279
2 Cases
727
Microscopic polyangiitis
32 Cases
83463
Microtia
83463
Microtia
139450
Microtia-eye colobomaimperforation of the
nasolacrimal duct syndrome
289522
Microtriplication 11q24.1
2290
Microvillus inclusion disease
2557
Mietens syndrome
4 Cases
2558
Mikati-Najjar-Sahli syndrome
5 Cases
169799
Mild hemophilia B
14 Cases
93279
Mild spondyloepiphyseal
dysplasia due to COL2A1
mutation with early-onset
osteoarthritis
8 Cases
98919
Miller Fisher syndrome
531
Miller-Dieker syndrome
4 Cases
2 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
16 Cases
4 Cases
2 Cases
2
Families
35
Families
55 Cases
8.3 BP*
3 Cases
2 Cases
9 Cases
1.0 I*
13.0 BP*
15.5 BP
1 Family
2 Cases
137
Cases
2 Cases
29 Cases
3 Cases
352734
12 Cases
3004
Minimal pigment
oculocutaneous albinism type 1
Mirror polydactyly-vertebral
segmentation-limbs defects
syndrome
9 Cases
5 Cases
0.6 P*
4
Families
0.1 I*
1.0 BP*
10 Cases
0.3 P*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
60
ORPHACod
e
1933
255235
369897
279934
363534
254875
1349
314637
289560
2598
502423
2597
298
2443
447784
Disease
or Group of diseases
Mitochondrial DNA depletion
syndrome, encephalomyopathic
form with methylmalonic
aciduria
Mitochondrial DNA depletion
syndrome, encephalomyopathic
form with renal tubulopathy
Mitochondrial DNA depletion
syndrome, encephalomyopathic
form with variable craniofacial
anomalies
Mitochondrial DNA depletion
syndrome, hepatocerebral form
due to DGUOK deficiency
Mitochondrial DNA depletion
syndrome, hepatocerebrorenal
form
Mitochondrial DNA depletion
syndrome, myopathic form
Mitochondrial hypertrophic
cardiomyopathy with lactic
acidosis due to MTO1 deficiency
Mitochondrial membrane
protein-associated
neurodegeneration
Mitochondrial myopathy and
sideroblastic anemia
Mitochondrial myopathycerebellar ataxia-pigmentary
retinopathy syndrome
Mitochondrial myopathy-lactic
acidosis-deafness syndrome
Mitochondrial
neurogastrointestinal
encephalomyopathy
Mitochondrial oxidative
phosphorylation disorder due to
nuclear DNA anomalies
Mitochondrial pyruvate carrier
deficiency
Mitochondrial trifunctional
protein deficiency
746
Mitochondrial trifunctional
protein deficiency
180234
Mixed germ cell tumor
90056
169796
2 Cases
5 Cases
20 Cases
Mitochondrial DNA-related
cardiomyopathy and hearing loss
746
324364
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Mixed sclerosing bone dystrophy
with extra-skeletal
manifestations
Moderate and severe traumatic
brain injury
Moderate hemophilia B
ORPHACod
e
Disease
or Group of diseases
570
Moebius syndrome
2560
Moebius syndrome-axonal
neuropathy-hypogonadotropic
hypogonadism syndrome
52368
Mohr-Tranebjaerg syndrome
228423
2565
1598
Monosomy 18p
3 Cases
1600
Monosomy 18q
45 Cases
574
Monosomy 21
2
Families
48652
Monosomy 22q13.3
77301
Monosomy 9q22.3
83467
Morvan syndrome
329813
Mosaic genome-wide paternal
uniparental disomy
7 Cases
1692
Mosaic trisomy 1
9 Cases
1708
Mosaic trisomy 16
2 Cases
1711
Mosaic trisomy 17
1723
Mosaic trisomy 2
100071
Mosaic trisomy 3
1747
Mosaic trisomy 7
4 Cases
99776
Mosaic trisomy 9
100
Cases
1052
Mosaic variegated aneuploidy
syndrome
3347
Mounier-Kühn syndrome
2152
Mowat-Wilson syndrome
280679
Moyamoya angiopathy-short
stature-facial dysmorphismhypergonadotropic
hypogonadism syndrome
2573
Moyamoya disease
401945
Moyamoya disease with earlyonset achalasia
0.1 P
0.1 P*
9.0 P*
1.0 P*
0.01 I*
2 Cases
37.8 P*
0.6 P*
7 Cases
91 Cases
Monocytopenia with
susceptibility to infections
Mononen-Karnes-Senac
syndrome
100
Cases
8 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
300
Cases
22 Cases
1 Family
2.0 BP*
2.5 BP
50 Cases
200
Cases
42 Cases
60 Cases
13 Cases
1 Case
226
Cases
31 Cases
22 Cases
6 Cases
31 Cases
50 Cases
41 Cases
300
Cases
1.7 BP*
9 Cases
0.035 I*
9 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
61
ORPHACod
e
Disease
or Group of diseases
2574
Moynahan syndrome
100024
398961
424053
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
26 Cases
ORPHACod
e
Disease
or Group of diseases
587
Muir-Torre syndrome
0.85 I*
2576
Mulibrey nanism
0.007 I*
371428
Multicentric osteolysisnodulosis-arthropathy spectrum
139436
Multicentric reticulohistiocytosis
0.34 BP*
1851
Multicystic dysplastic kidney
0.985 BP*
3282
Multifocal atrial tachycardia
13.0 P
641
Multifocal motor neuropathy
1.0 BP*
2091
35 Cases
Mu-heavy chain disease
Mucinous adenocarcinoma of
ovary
Mucinous cystadenocarcinoma
of the pancreas
575
Muckle-Wells syndrome
576
Mucolipidosis type II
577
Mucolipidosis type III
423461
Mucolipidosis type III alpha/beta
579
Mucopolysaccharidosis type 1
579
Mucopolysaccharidosis type 1
579
Mucopolysaccharidosis type 1
580
Mucopolysaccharidosis type 2
580
Mucopolysaccharidosis type 2
580
Mucopolysaccharidosis type 2
217085
Mucopolysaccharidosis type 2,
severe form
581
Mucopolysaccharidosis type 3
581
Mucopolysaccharidosis type 3
582
Mucopolysaccharidosis type 4
582
Mucopolysaccharidosis type 4
309297
Mucopolysaccharidosis type 4A
583
Mucopolysaccharidosis type 6
583
Mucopolysaccharidosis type 6
584
Mucopolysaccharidosis type 7
505248
Mucopolysaccharidosis-like
syndrome with congenital heart
defects and hematopoietic
disorders
566943
Mueller-Weiss syndrome
53271
Muenke syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
205
Cases
200
Cases
0.82 BP
500135
0.5 P*
0.7 BP*
280633
0.68 BP
300496
0.2 P*
652
0.4 BP*
653
0.87 BP*
Multinodular goiter-cystic
kidney-polydactyly syndrome
Multinucleated neuronsanhydramnios-renal dysplasiacerebellar hypoplasiahydranencephaly syndrome
Multiple congenital anomalieshypotonia-seizures syndrome
Multiple congenital anomalieshypotonia-seizures syndrome
type 2
Multiple endocrine neoplasia
type 1
Multiple endocrine neoplasia
type 2
251
Multiple epiphyseal dysplasia
0.45 BP*
93311
Multiple epiphyseal dysplasia
type 5
0.07 BP
166024
15.0 P*
166011
0.16 BP*
166016
0.16 P*
166032
0.3 P*
0.01 P*
166029
19 Cases
401869
401874
277
Cases
3.33 BP
363424
457406
569274
Multiple epiphyseal dysplasia,
Al-Gazali type
Multiple epiphyseal dysplasia,
Beighton type
Multiple epiphyseal dysplasia,
Lowry type
Multiple epiphyseal dysplasia,
with miniepiphyses
Multiple epiphyseal dysplasia,
with severe proximal femoral
dysplasia
Multiple mitochondrial
dysfunctions syndrome type 1
Multiple mitochondrial
dysfunctions syndrome type 2
Multiple mitochondrial
dysfunctions syndrome type 3
Multiple mitochondrial
dysfunctions syndrome type 4
Multiple mitochondrial
dysfunctions syndrome type 5
150
Cases
50 Cases
200
Cases
23.26 BP
0.67 BP
1.5 P
3 Cases
3 Cases
15 Cases
24 Cases
3.3 P*
2.9 P*
5.0 P*
18
Families
4 Cases
1 Family
2 Cases
2 Cases
3 Cases
21 Cases
6 Cases
2 Cases
8 Cases
6 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
62
ORPHACod
e
Disease
or Group of diseases
569290
Multiple mitochondrial
dysfunctions syndrome type 6
29073
Multiple myeloma
29073
Multiple myeloma
29073
Multiple myeloma
321
Multiple osteochondromas
324299
2215
3151
65748
3237
Multiple synostoses syndrome
102
102
98933
404463
370997
2579
199340
324416
2953
139578
659
Multiple system atrophy
Multiple system atrophy
Multiple system atrophy
Multiple system atrophy,
parkinsonian type
Multisystemic smooth muscle
dysfunction syndrome
Muscle-eye-brain disease with
bilateral multicystic
leucodystrophy
Muscular atrophy-ataxia-retinitis
pigmentosa-diabetes mellitus
syndrome
589
Myasthenia gravis
Myasthenia gravis
589
Myasthenia gravis
268249
Mycophenolate mofetil
embryopathy
178566
Mycosis fungoides and variants
52688
Myelodysplastic syndrome
52688
Myelodysplastic syndrome
98275
Myelodysplastic/myeloproliferati
ve disease
86850
Myeloid sarcoma
100
Cases
98274
Myeloproliferative neoplasm
50 Cases
86909
Myoclonic epilepsy of infancy
30
Families
2589
3.0 P*
2 Cases
4 Cases
2 Cases
536516
3.7 P*
1.8 I
3.5 P
2.4 P*
Myotonic dystrophy
206647
Myotonic dystrophy
99967
Myxoid/round cell liposarcoma
7 Cases
1655
2 Cases
2491
12 Cases
Müllerian derivativeslymphangiectasia-polydactyly
syndrome
Müllerian duct anomalies-limb
anomalies syndrome
2608
N syndrome
555402
NAD(P)HX dehydratase
deficiency
555407
NAD(P)HX epimerase deficiency
2 Cases
443162
34 Cases
464366
NDE1-related
microhydranencephaly
NEK9-related lethal skeletal
dysplasia
447731
NIK deficiency
263665
NK-cell enteropathy
14 Cases
73 Cases
1.7 I*
7.77 P
527497
247868
3032
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
20.0 P*
0.53 I
25 Cases
0.59 I*
1.5 I*
5.02
0.29 I*
0.02 I*
3.07 I*
106
Cases
Myoclonus-cerebellar ataxiadeafness syndrome
Myopathic Ehlers-Danlos
syndrome
206647
12 Cases
Muscular hypertrophyhepatomegaly-polyhydramnios
syndrome
Musculocontractural EhlersDanlos syndrome
Mutilating hereditary sensory
neuropathy with spastic
paraplegia
Mutilating palmoplantar
keratoderma with periorificial
keratotic plaques
Myasthenia gravis
589
11.9 P*
Muscular dystrophy, Selcen type
589
Disease
or Group of diseases
2.4 I*
Multiple self-healing squamous
epithelioma
Multiple sulfatase deficiency
ORPHACod
e
6.0 I
Multiple paragangliomas
associated with polycythemia
Multiple pterygium-malignant
hyperthermia syndrome
Multiple sclerosis-ichthyosisfactor VIII deficiency syndrome
585
102
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
5 Cases
NKX6-2-related autosomal
recessive hypomyelinating
leukodystrophy
NLRP12-associated hereditary
periodic fever syndrome
NPHP3-related Meckel-like
syndrome
4 Cases
8 Cases
6.7 P
8.78 P*
0.1 I*
8 Cases
5 Cases
3 Cases
6 Cases
11 Cases
1 Family
5 Cases
2 Cases
8 Cases
25 Cases
19 Cases
10 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
63
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Naegeli-Franceschetti-Jadassohn
0.035 P*
69087
syndrome
100
245
Nager syndrome
Cases
423454
2614
2613
Nail and teeth abnormalitiesmarginal palmoplantar
keratoderma-oral
hyperpigmentation syndrome
Nail-patella syndrome
Nance-Horan syndrome
2073
Narcolepsy type 1
2399
Nasopalpebral lipoma-coloboma
syndrome
Nasopharyngeal carcinoma
150
Nasopharyngeal carcinoma
2663
Nathalie syndrome
255229
Navajo neurohepatopathy
391673
Necrotizing enterocolitis
607
Nemaline myopathy
217563
398097
398109
Neonatal acute respiratory
distress due to SP-B deficiency
Neonatal antiphospholipid
syndrome
Neonatal autoimmune hemolytic
anemia
398117
Neonatal dermatomyositis
224
Neonatal diabetes mellitus
79118
457185
557064
446
59303
294023
0.2 BP*
3 Cases
Nail-patella-like renal disease
627
150
6 Cases
Neonatal diabetes-congenital
hypothyroidism-congenital
glaucoma-hepatic fibrosispolycystic kidneys syndrome
Neonatal encephalomyopathycardiomyopathy-respiratory
distress syndrome
Neonatal epileptic
encephalopathy due to
glutaminase deficiency
Neonatal hemochromatosis
Neonatal ichthyosis-sclerosing
cholangitis syndrome
Neonatal inflammatory skin and
bowel disease
196
Cases
ORPHACod
e
Disease
or Group of diseases
398127
Neonatal scleroderma
466784
Neonatal severe
cardiopulmonary failure due to
mitochondrial methylation
defect
94058
Neovascular glaucoma
654
Nephroblastoma
654
Nephroblastoma
654
Nephroblastoma
223
Nephrogenic diabetes insipidus
25.0 P*
3145
30 Cases
93606
2.0 P*
2668
0.36 I*
1 Family
2669
49 Cases
300333
45.0 P
280576
0.067 BP
634
Netherton syndrome
34 Cases
634
Netherton syndrome
2 Cases
2671
Neu-Laxova syndrome
3 Cases
2672
Neuhauser-Eichner-Opitz
syndrome
3388
Neural tube defect
635
Neuroblastoma
635
Neuroblastoma
635
Neuroblastoma
2481
Neurocutaneous melanocytosis
3 Cases
11 Cases
4 Cases
88639
35 Cases
12 Cases
3 Cases
385
217382
3 Cases
24.4 P*
0.14 I*
10.0 BP*
3.65
0.15 P*
Nephrogenic diabetes insipidusintracranial calcification-facial
dysmorphism syndrome
Nephrogenic syndrome of
inappropriate antidiuresis
Nephropathy-deafnesshyperparathyroidism syndrome
Nephrosis-deafness-urinary
tract-digital malformations
syndrome
Nephrotic syndromeepidermolysis bullosasensorineural deafness
syndrome
Nestor-Guillermo progeria
syndrome
2.0 BP*
1.1 BP*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
6 Cases
Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase
deficiency
Neurodegeneration with brain
iron accumulation
Neurodegenerative syndrome
due to cerebral folate transport
deficiency
19 Cases
21 Cases
5 Cases
5 Cases
3 Cases
2 Cases
0.5 BP*
0.5 P*
91 Cases
5 Cases
91.05 BP*
11.0 P*
1.26 I
5.8 BP*
1.25 P*
20 Cases
0.2 P*
3 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
64
ORPHACod
e
529665
453499
352665
453504
33445
877
97253
100075
Disease
or Group of diseases
Neurodevelopmental delayseizures-ophthalmic anomaliesosteopenia-cerebellar atrophy
syndrome
Neurodevelopmental disordercraniofacial dysmorphismcardiac defect-skeletal anomalies
syndrome
Neurodevelopmental disordercraniofacial dysmorphismcardiac defect-skeletal anomalies
syndrome due to 9q21.3
microdeletion
Neurodevelopmental disordercraniofacial dysmorphismcardiac defect-skeletal anomalies
syndrome due to a point
mutation
Neuroectodermal
melanolysosomal disease
Neuroendocrine neoplasm
Neuroendocrine tumor of
pancreas
Neuroendocrine tumor of
stomach
2673
Neurofaciodigitorenal syndrome
157846
Neuroferritinopathy
636
Neurofibromatosis type 1
636
Neurofibromatosis type 1
637
Neurofibromatosis type 2
1143
85146
137754
35705
71211
71211
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Neurogenic arthrogryposis
multiplex congenita
Neurogenic scapuloperoneal
syndrome, Kaeser type
Neurological conditions
associated with aminoacylase 1
deficiency
Neurometabolic disorder due to
serine deficiency
Neuromyelitis optica spectrum
disorder
Neuromyelitis optica spectrum
disorder
216
Neuronal ceroid lipofuscinosis
139512
Neuropathy with hearing
impairment
137596
Neurotrophic keratopathy
165
Neutral lipid storage disease
10 Cases
ORPHACod
e
Disease
or Group of diseases
98908
Neutral lipid storage myopathy
2690
25 Cases
183707
Neutropenia-monocytopeniadeafness syndrome
Neutrophil immunodeficiency
syndrome
263432
Nevus of Ito
3051
Nicolaides-Baraitser syndrome
77292
Niemann-Pick disease type A
77293
Niemann-Pick disease type B
646
Niemann-Pick disease type C
1390
Night blindness-skeletal
anomalies-dysmorphism
syndrome
2.53 I*
647
Nijmegen breakage syndrome
0.21 I*
240760
Nijmegen breakage syndromelike disorder
99825
Nipah virus disease
2 Cases
10 Cases
20 Cases
3.2 P*
3 Cases
86867
90 Cases
86893
21.3 P*
86893
33.3 BP
547
1.7 P*
467
4.3 BP*
15 Cases
231720
15 Cases
2337
30 Cases
2972
0.1877 I
91349
2.071 P
91349
2.0 P*
Nodal marginal zone B-cell
lymphoma
Nodular lymphocyte
predominant Hodgkin lymphoma
Nodular lymphocyte
predominant Hodgkin lymphoma
Non-Hodgkin lymphoma
Non-acquired combined pituitary
hormone deficiency
Non-acquired combined pituitary
hormone deficiencysensorineural hearing loss-spine
abnormalities syndrome
Non-epidermolytic palmoplantar
keratoderma
Non-eruption of teeth-maxillary
hypoplasia-genu valgum
syndrome
Non-functioning pituitary
adenoma
Non-functioning pituitary
adenoma
357034
Non-hereditary retinoblastoma
329883
Non-hypoproteinemic
hypertrophic gastropathy
363999
Non-immune hydrops fetalis
90061
Non-infectious posterior uveitis
1 Family
4.2 P*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
36 Cases
50 Cases
3 Cases
2 Cases
1.17 P*
61 Cases
0.25 BP*
0.4 P*
1.0 P*
2 Cases
1.0 BP
1 Case
556
Cases
1.0 P*
0.12 I
0.095 I*
11.6 I*
29.0 BP*
13 Cases
2.5 P*
4 Cases
1.05 I
2.55 I*
0.038 I*
1 Family
42.0 BP
18.0 P*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
65
ORPHACod
e
209989
314647
363494
363494
90031
557
557
95706
Disease
or Group of diseases
Non-papillary transitional cell
carcinoma of the bladder
Non-progressive cerebellar
ataxia with intellectual disability
Non-seminomatous germ cell
tumor of testis
Non-seminomatous germ cell
tumor of testis
Non-spherocytic hemolytic
anemia due to hexokinase
deficiency
Non-syndromic anorectal
malformation
Non-syndromic anorectal
malformation
Non-syndromic posterior
hypospadias
500
Noonan syndrome with multiple
lentigines
2701
Noonan syndrome-like disorder
with loose anagen hair
649
Norrie disease
75327
North Carolina macular
dystrophy
2760
OSLAM syndrome
397615
Obesity due to CEP19 deficiency
66628
71526
71528
88643
Obesity due to congenital leptin
deficiency
Obesity due to proopiomelanocortin deficiency
Obesity due to prohormone
convertase I deficiency
Obesity-colitis-hypothyroidismcardiac hypertrophydevelopmental delay syndrome
198
Occipital horn syndrome
280640
Occipital pachygyria and
polymicrogyria
2704
Ochoa syndrome
Ocular albinism with late-onset
sensorineural deafness
Ocular anomalies-axonal
496790 neuropathy-developmental delay
syndrome
Ocular motor apraxia, Cogan
1125
type
1000
2714
Oculo-palato-cerebral syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
37.0 P*
15 Cases
1.21 I*
ORPHACod
e
157962
398156
2719
33.53
2720
17
Families
1647
557003
20.0 BP
2707
24.0 BP*
534
20.0 BP*
296
Cases
534
Disease
or Group of diseases
Oculoauricular syndrome,
Schorderet type
Oculoauriculofrontonasal
syndrome
Oculocerebral hypopigmentation
syndrome, Cross type
Oculocerebral hypopigmentation
syndrome, Preus type
Oculocerebrocutaneous
syndrome
Oculocerebrofacial syndrome,
Kaufman type
Oculocerebrorenal syndrome of
Lowe
Oculocerebrorenal syndrome of
Lowe
Oculocutaneous albinism
352731
Oculocutaneous albinism type 1
79431
Oculocutaneous albinism type 1A
79434
Oculocutaneous albinism type 1B
79432
Oculocutaneous albinism type 2
79435
Oculocutaneous albinism type 4
370091
Oculocutaneous albinism type 5
370097
Oculocutaneous albinism type 6
352745
Oculocutaneous albinism type 7
2709
Oculodental syndrome,
Rutherfurd type
2710
Oculodentodigital dysplasia
1876
Oculogastrointestinal muscular
dystrophy
1794
Oculomaxillofacial dysostosis
100
Cases
2713
Oculoosteocutaneous syndrome
9 Cases
99806
Oculootodental syndrome
2717
Oculotrichoanal syndrome
2718
Oculotrichodysplasia
2722
Odonto-onycho dysplasiaalopecia syndrome
2721
Odonto-onycho-dermal dysplasia
400
Cases
2
Families
3 Cases
15 Cases
30 Cases
7 Cases
16 Cases
2 Cases
35 Cases
3 Cases
8 Cases
50 Cases
5 Cases
41 Cases
14 Cases
2 Cases
38 Cases
5 Cases
Oculocerebrodental syndrome
55
70 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
5 Cases
19 Cases
0.2 P
0.2 P*
5.9 P
2.5 P
1.3 P
1.3 P
2.55 P
1.0 P
1 Family
1 Case
9 Cases
1 Family
243
Cases
1 Family
4 Cases
3 Cases
1 Family
20 Cases
2 Cases
2 Cases
30 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
66
ORPHACod
e
Disease
or Group of diseases
69082
Odonto-tricho-ungual-digitopalmar syndrome
166272
Odontochondrodysplasia
77295
Odontoleukodystrophy
2724
Odontomatosis-aortae
esophagus stenosis syndrome
1811
Odontomicronychial dysplasia
2723
Odontotrichomelic syndrome
391655
Off-periods in Parkinson disease
not responding to oral treatment
276432
Ogden syndrome
75382
Oguchi disease
2729
Okamoto syndrome
85410
Oligoarticular juvenile idiopathic
arthritis
251651
75378
46484
251627
300576
2920
296
39041
2733
660
3164
496693
352540
300504
Oligoastrocytic tumor
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
21 Cases
Oligodendroglioma
4 Cases
3 Cases
Onychocytic matricoma
300512
Onychomatricoma
2741
Ophthalmomandibulomelic
dysplasia
Opsismodysplasia
1183
4 Cases
401777
313800
20.5 P*
Optic pathway glioma
508501
Oral-facial-digital syndrome with
short stature and
brachymesophalangy
52994
Orbital leiomyoma
664
0.11 I*
14 Cases
Opsoclonus-myoclonus
syndrome
Optic atrophy-ataxia-peripheral
neuropathy-global
developmental delay syndrome
Optic atrophy-intellectual
disability syndrome
Optic nerve edemasplenomegaly syndrome
2086
5 Cases
664
Ornithine transcarbamylase
deficiency
Ornithine transcarbamylase
deficiency
2750
Orofaciodigital syndrome type 1
141327
Orofaciodigital syndrome type 12
141330
Orofaciodigital syndrome type 13
434179
Orofaciodigital syndrome type 14
2751
Orofaciodigital syndrome type 2
2752
Orofaciodigital syndrome type 3
2753
Orofaciodigital syndrome type 4
2919
Orofaciodigital syndrome type 5
5 Cases
2754
Orofaciodigital syndrome type 6
7 Cases
2755
Orofaciodigital syndrome type 8
141007
Orofaciodigital syndrome type 9
73230
Ossification anomaliespsychomotor developmental
delay syndrome
2764
Osteochondritis dissecans
2653
Osteochondrodysplatic nanismdeafness-retinitis pigmentosa
syndrome
0.35 I*
0.25 I*
2
Families
6 Cases
30 Cases
0.02 I*
17 Cases
6 Cases
3 Cases
0.12 I
3 Cases
26 Cases
1.0 P*
1.77 BP
1.2 BP*
1 Case
1 Case
2
Families
7 Cases
1.0 P*
25 Cases
30 Cases
Omodysplasia
Oncogenic osteomalacia
2746
50 Cases
Omenn syndrome
Omphalocele syndrome,
Shprintzen-Goldberg type
Omphalocele-diaphragmatic
hernia-cardiovascular anomaliesradial ray defect syndrome
Ophthalmoplegia-intellectual
disability-lingua scrotalis
syndrome
543470
8 Cases
Oliver syndrome
Omphalocele
2743
5 Cases
4.15 P*
Oligodontia-cancer
predisposition syndrome
Ollier disease
Disease
or Group of diseases
11 Cases
Oligocone trichromacy
Oligodendroglial tumor
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
11.7 BP*
400
Cases
5 Cases
50 Cases
3 Cases
20 Cases
5 Cases
29 Cases
12 Cases
2
Families
20 Cases
10 Cases
2 Cases
35.0 P*
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
67
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Osteoclastic giant cell tumor of
0.001 I*
424080
pancreas
30 Cases
2763
Osteocraniostenosis
666
Osteogenesis imperfecta
216828
Osteogenesis imperfecta type 5
2773
Osteogenesis imperfectaretinopathy-seizures-intellectual
disability syndrome
2645
Osteoglosphonic dysplasia
2777
Osteomesopyknosis
2780
Osteopathia striata-cranial
sclerosis syndrome
2779
2324
2781
2785
178389
2786
2788
668
668
178377
75325
500548
2791
Osteopathia striata-pigmentary
dermopathy-white forelock
syndrome
Osteopenia-intellectual
disability-sparse hair syndrome
Osteopetrosis and related
disorders
Osteosarcoma
Osteosarcoma
Disease
or Group of diseases
99853
Ovarioleukodystrophy
498488
Overgrowth syndrome with 2q37
translocation
137634
Overgrowth-macrocephaly-facial
dysmorphism syndrome
498485
Overgrowth-metaphyseal
undermodeling-spondylar
dysplasia syndrome
7 Cases
3203
Overhydrated hereditary
stomatocytosis
35 Cases
991
PAGOD syndrome
100
Cases
2825
PARC syndrome
8.06 P
47 Cases
2 Cases
3 Cases
2 Cases
1.0 I*
100
Cases
Osteopetrosis with renal tubular
acidosis
Osteopetrosishypogammaglobulinemia
syndrome
Osteoporosis-oculocutaneous
hypopigmentation syndrome
Osteoporosis-pseudoglioma
syndrome
ORPHACod
e
438134
439822
99807
PEHO-like syndrome
313936
PENS syndrome
42642
PFAPA syndrome
319646
PGM1-CDG
443811
PGM3-CDG
42775
PHACE syndrome
2876
PHAVER syndrome
8 Cases
1 Case
0.05 P*
90652
1427
213500
3.17
Osteosclerosis-developmental
delay-craniosynostosis syndrome
Osteosclerosis-ichthyosispremature ovarian failure
syndrome
Osteosclerotic metaphyseal
dysplasia
13 Cases
589905
3 Cases
568062
7 Cases
10
Families
Otodental syndrome
521426
6 Cases
Otoonychoperoneal syndrome
Otopalatodigital syndrome type
2
Otospondylomegaepiphyseal
dysplasia
Ovarian cancer
4 Cases
6
Families
4 Cases
20
Families
6 Cases
2 Cases
4 Cases
7 Cases
10 Cases
13 Cases
500
Cases
46 Cases
20 Cases
300
Cases
0.23 I*
300359
2793
PCNA-related progressive
neurodegenerative
photosensitivity syndrome
PDE4D haploinsufficiency
syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
17 Cases
40 Cases
79401
30 Cases
49.0 P*
537072
PHIP-related behavioral
problems-intellectual disabilityobesity-dysmorphic features
syndrome
PIEZO1-related generalized
lymphatic dysplasia with nonimmune hydrops fetalis
PLAA-associated
neurodevelopmental disorder
PLCG2-associated antibody
deficiency and immune
dysregulation
PLEC-related intermediate
epidermolysis bullosa simplex
without extracutaneous
involvement
PLG-related hereditary
angioedema with normal C1Inh
2 Cases
35 Cases
10 Cases
15 Cases
3
Families
6
Families
105
Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
68
ORPHACod
e
280356
476394
477817
480682
206564
565899
206559
79083
412066
544469
589515
438213
438216
481152
Disease
or Group of diseases
PLIN1-related familial partial
lipodystrophy
PMP2-related Charcot-MarieTooth disease type 1
PMP22-RAI1 contiguous gene
duplication syndrome
POGLUT1-related limb-girdle
muscular dystrophy R21
POMGNT1-related limb-girdle
muscular dystrophy R15
POMGNT2-related limb-girdle
muscular dystrophy R24
POMT2-related limb-girdle
muscular dystrophy R14
PPARG-related familial partial
lipodystrophy
PRKAR1B-related
neurodegenerative dementia
with intermediate filaments
PRUNE1-related neurological
syndrome
PUM1-associated developmental
disability-ataxia-seizure
syndrome
PURA-related severe neonatal
hypotonia-seizuresencephalopathy syndrome
PURA-related severe neonatal
hypotonia-seizuresencephalopathy syndrome due
to a point mutation
PYCR2-related microcephalyprogressive
leukoencephalopathy
2796
Pachydermoperiostosis
2798
Pachygyria-intellectual disabilityepilepsy syndrome
2309
Pachyonychia congenita
180275
Paget disease of the nipple
1993
Pai syndrome
300501
477993
Painful orbital and systemic
neurofibromas-marfanoid
habitus syndrome
Palatal anomalies-widely spaced
teeth-facial dysmorphismdevelopmental delay syndrome
672
Pallister-Hall syndrome
140966
Palmoplantar keratoderma,
Nagashima type
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3 Cases
13 Cases
ORPHACod
e
Disease
or Group of diseases
85112
Palmoplantar keratoderma-XX
sex reversal-predisposition to
squamous cell carcinoma
syndrome
2202
Palmoplantar keratodermadeafness syndrome
2198
Palmoplantar keratodermaesophageal carcinoma syndrome
23 Cases
4 Cases
2 Cases
3 Cases
538574
1 Case
2201
10 Cases
556955
12 Cases
48 Cases
14 Cases
24 Cases
309108
2255
199337
677
317473
24 Cases
401764
157850
18 Cases
204
Cases
5 Cases
1000
Cases
0.51 I*
67 Cases
4 Cases
100
Cases
40 Cases
Pancytopenia due to IKZF1
mutations
Pancytopenia-developmental
delay syndrome
Pantothenate kinase-associated
neurodegeneration
2812
Parana hard skin syndrome
63455
Paraneoplastic pemphigus
2824
Paraplegia-intellectual disabilityhyperkeratosis syndrome
363478
Paratesticular adenocarcinoma
143
Parathyroid carcinoma
143
Parathyroid carcinoma
98811
23 Cases
1 Family
4 Cases
2 Cases
10 Cases
5 Cases
60 Cases
Pancreatoblastoma
Papillon-Lefèvre syndrome
53583
10
Families
Pancreatic hypoplasia-diabetescongenital heart disease
syndrome
Pancreatic insufficiency-anemiahyperostosis syndrome
678
851
10
Families
Pancreatic colipase deficiency
Papillary renal cell carcinoma
251290
5 Cases
Palmoplantar keratodermahereditary motor and sensory
neuropathy syndrome
Palmoplantar keratodermaspastic paralysis syndrome
Pancreatic agenesisholoprosencephaly syndrome
319298
3 Cases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Parietal foramina with clavicular
hypoplasia
Paris-Trousseau
thrombocytopenia
Paroxysmal dystonic
choreathetosis with episodic
ataxia and spasticity
Paroxysmal exertion-induced
dyskinesia
39 Cases
3 Cases
0.15 P*
0.14 I*
0.25 P
8 Cases
60 Cases
6 Cases
0.01
0.02 I*
0.28
8 Cases
50 Cases
20 Cases
50 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
69
ORPHACod
e
Disease
or Group of diseases
46348
Paroxysmal extreme pain
disorder
98809
447
98810
1330
1330
Paroxysmal kinesigenic
dyskinesia
Paroxysmal nocturnal
hemoglobinuria
Paroxysmal non-kinesigenic
dyskinesia
Partial atrioventricular septal
defect
Partial atrioventricular septal
defect
1646
Partial chromosome Y deletion
1646
Partial chromosome Y deletion
401959
90076
262941
Partial corpus callosum agenesiscerebellar vermis hypoplasia
with posterior fossa cysts
syndrome
Partial deep dermal and full
thickness burns
Partial duplication of the long
arm of chromosome 14
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4
Families
0.6 P
2.0 P*
Disease
or Group of diseases
444138
Peeling skin-leukonychia-acral
punctate keratoses-cheilitisknuckle pads syndrome
702
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease,
classic form
Pelizaeus-Merzbacher disease,
280210
connatal form
Pelizaeus-Merzbacher disease,
280224
transitional form
Pelvic dysplasia-arthrogryposis of
2840
lower limbs syndrome
280219
0.1 P
20.0 BP*
30.0 P*
20.8 P
20.0 P*
2 Cases
10.0 P*
50 Cases
50 Cases
2805
Partial pancreatic agenesis
94083
Partington syndrome
2
Families
Patella aplasia/hypoplasia
5
Families
86789
ORPHACod
e
2839
Pelvis-shoulder dysplasia
93333
Pelviscapular dysplasia
704
Pemphigus vulgaris
705
Pendred syndrome
49
Penile agenesis
1335
Pentalogy of Cantrell
1335
Pentalogy of Cantrell
2847
Pericardial and diaphragmatic
defect
65250
Perineural cyst
436166
228190
261304
96192
2439
Patent ductus arteriosusbicuspid aortic valve-hand
anomalies syndrome
Paternal 20q13.2q13.3
microdeletion syndrome
Paternal uniparental disomy of
chromosome 7
Patterson-Stevenson-Fontaine
syndrome
699
Pearson syndrome
2835
Pectus excavatummacrocephaly-dysplastic nails
syndrome
7 Cases
397750
2 Cases
4 Cases
7 Cases
95 Cases
397755
75392
4 Cases
0.25 P*
0.17 P*
0.03 P*
0.03 P*
5 Cases
10 Cases
4 Cases
18.0 P*
7.0 P*
80 Cases
0.55 BP*
0.67 BP
20 Cases
50.0 I*
Periodic fever-infantile
enterocolitis-autoinflammatory
syndrome
Periodic paralysis with lateronset distal motor neuropathy
Periodic paralysis with transient
compartment-like syndrome
Periodontal Ehlers-Danlos
syndrome
4 Cases
9 Cases
4 Cases
62 Cases
10 Cases
139426 Perioral myoclonia with absences
563
Peripartum cardiomyopathy
163746
Peripheral demyelinating
neuropathy-central
dysmyelinating leukodystrophyWaardenburg syndromeHirschsprung disease
1795
Peripheral dysostosis
1 Family
24 Cases
487809
Pediatric collagenous gastritis
33402
Pediatric hepatocellular
carcinoma
263548
Peeling skin syndrome type A
40
Families
2400
Peeling skin syndrome type B
30
Families
397744
263553
0.15 I*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Peripheral motor neuropathydysautonomia syndrome
Peripheral neuropathymyopathy-hoarseness-hearing
loss syndrome
30.0 BP
40 Cases
6 Cases
2 Cases
15 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
70
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
150
168816 Peritoneal cystic mesothelioma
Cases
2849
226292
65288
2971
2855
Perrault syndrome
178509
Perry syndrome
97341
Persistent placoid maculopathy
300324
Persistent polyclonal B-cell
lymphocytosis
708
Peters plus syndrome
2869
Peutz-Jeghers syndrome
2869
Peutz-Jeghers syndrome
710
Pfeiffer syndrome
2871
Pfeiffer-Palm-Teller syndrome
2874
352636
716
2878
2880
4 Cases
Phocomelia-ectrodactylydeafness-sinus arrhythmia
syndrome
Phosphoenolpyruvate
carboxykinase deficiency
3222
Phosphoribosylpyrophosphate
synthetase superactivity
498228
Phyllodes tumor of the prostate
2885
Piebald trait-neurologic defects
syndrome
487825
Pierpont syndrome
2888
Pierre Robin syndromefaciodigital anomaly syndrome
Pierson syndrome
447961
Pigmentation defectspalmoplantar keratoderma-skin
carcinoma syndrome
251295
Pigmented paravenous
retinochoroidal atrophy
2891
61 Cases
2890
53 Cases
2892
5 Cases
251909
Pineoblastoma
154
Cases
300385
Pituitary carcinoma
300385
Pituitary carcinoma
2897
Pityriasis rubra pilaris
439167
Placental insufficiency
100
Cases
2.2 BP
99928
0.4 P*
99928
1.0 BP*
2 Cases
34 Cases
50 Cases
10.0 BP*
4 Cases
10 Cases
30
Families
90 Cases
Plague
454714
Plasma cell leukemia
254361
Plectin-related limb-girdle
muscular dystrophy R17
99969
Pleomorphic liposarcoma
454821
Pleomorphic salivary gland
adenoma
251607
Pleomorphic xanthoastrocytoma
449266
Pleural empyema
50251
Pleural mesothelioma
50251
Pleural mesothelioma
64742
Pleuropulmonary blastoma
284343
Pleuropulmonary blastoma
familial tumor susceptibility
syndrome
54028
Plummer-Vinson syndrome
90066
Pneumonia caused by
Pseudomonas aeruginosa
infection
7 Cases
2 Cases
Placental site trophoblastic
tumor
Placental site trophoblastic
tumor
707
8 Cases
2 Cases
100
Cases
Pili torti-developmental delayneurological abnormalities
syndrome
Pili torti-onychodysplasia
syndrome
Pilodental dysplasia-refractive
errors syndrome
40 Cases
60 Cases
Phakomatosis
pigmentokeratotica
Phalangeal microgeodic
syndrome
Phenylketonuria
2670
33.3 BP*
Peters anomaly
709
Disease
or Group of diseases
30 Cases
Perlman syndrome
Permanent congenital
hypothyroidism
Permanent neonatal diabetes
mellitus-pancreatic and
cerebellar agenesis syndrome
Peroxisomal acyl-CoA oxidase
deficiency
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
40
Families
2 Cases
1 Family
2 Cases
0.02 I*
0.04 I*
0.87
48 Cases
33.0 P
0.02 I*
0.86
2.2 I*
0.04 I*
6 Cases
0.05 I*
2.725 I
0.01 I*
13.0 P*
3.1 P*
1.9 I*
0.5 BP*
0.007 I
25 Cases
50.0 P*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
71
ORPHACod
e
Disease
or Group of diseases
221046
Poikiloderma with neutropenia
2911
Poland syndrome
767
Polyarteritis nodosa
729
Polycythemia vera
729
2917
453533
397937
456369
500533
183422
300573
250972
732
732
171848
2928
2934
228410
477749
Polycythemia vera
1.5 BP*
Polyendocrine-polyneuropathy
syndrome
Polyglucosan body myopathy
type 1
Polyglucosan body myopathy
type 2
Polyhydramniosmegalencephaly-symptomatic
epilepsy syndrome
Polymalformative genetic
syndrome with increased risk of
developing cancer
Polymicrogyria due to TUBB2B
mutation
Polymicrogyria with optic nerve
hypoplasia
Polymyositis
Polymyositis
Polyneuropathy-hearing lossataxia-retinitis pigmentosacataract syndrome
Polyneuropathy-intellectual
disability-acromicria-premature
menopause syndrome
Polysyndactyly-cardiac
malformation syndrome
Polyvalvular heart disease
syndrome
Pontine autosomal dominant
microangiopathy with
leukoencephalopathy
Pontine tegmental cap dysplasia
2254
Pontocerebellar hypoplasia type
1
411493
Pontocerebellar hypoplasia type
10
2524
Pontocerebellar hypoplasia type
2
Pontocerebellar hypoplasia type
3
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
10
Pontocerebellar hypoplasia type
166063
Families
4
166073
3.0 P*
284339
1.9 I*
324569
30.0 P*
1 Family
Polydactyly-myopia syndrome
269229
97249
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
50 Cases
3 Cases
11 Cases
369920
294963
2941
15 Cases
306547
17 Cases
166286
10.0 P*
36 Cases
4 Cases
0.585 I*
7.1 P*
Popliteal pterygium syndrome
Porphyria
101330
Porphyria cutanea tarda
101330
Porphyria cutanea tarda
79473
Porphyria variegata
79473
Porphyria variegata
19 Cases
70568
3 Cases
246
8 Cases
420584
2916
Port-wine nevi-mega cisterna
magna-hydrocephalus syndrome
Post-transplant
lymphoproliferative disease
4 Cases
6 Cases
14 Cases
0.3 BP*
2 Cases
8 Cases
45 Cases
5.25 P
0.6 I*
4.0 P*
0.008 I*
0.32 P*
5 Cases
26.2 P*
30 Cases
Postaxial acrofacial dysostosis
Postaxial polydactyly-anterior
pituitary anomalies-facial
dysmorphism syndrome
Postaxial polydactyly-dental and
vertebral anomalies syndrome
11 Cases
2730
Postaxial tetramelic oligodactyly
22 Cases
98971
Posterior amorphous corneal
dystrophy
40
Families
88628
23 Cases
2064
81
Families
93110
Posterior urethral valve
93110
Posterior urethral valve
3
Families
10 Cases
Porencephaly-cerebellar
hypoplasia-internal
malformations syndrome
Porencephaly-microcephalybilateral congenital cataract
syndrome
Porokeratotic eccrine ostial and
dermal duct nevus
738
2703
19 Cases
Pontocerebellar hypoplasia type
6
Pontocerebellar hypoplasia type
7
Pontocerebellar hypoplasia type
8
Pontocerebellar hypoplasia type
9
112
Cases
3 Cases
4 Cases
11
Families
Posterior column ataxia-retinitis
pigmentosa syndrome
Posterior fusion of lumbosacral
vertebrae-blepharoptosis
syndrome
20 Cases
3 Cases
2.0 P*
4.125 BP*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
72
ORPHACod
e
572013
477673
Disease
or Group of diseases
Posterior-predominant
lissencephaly-broad flat pons
and medulla-midline crossing
defects syndrome
Postnatal microcephaly-infantile
hypotonia-spastic diplegiadysarthria-intellectual disability
syndrome
279947
Postorgasmic illness syndrome
443236
Postural orthostatic tachycardia
syndrome due to NET deficiency
52022
Potocki-Shaffer syndrome
217067
Pouchitis
397606
PrP systemic amyloidosis
739
Prader-Willi syndrome
398073
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
8 Cases
17 Cases
45 Cases
2 Cases
40 Cases
22.0 P*
ORPHACod
e
Disease
or Group of diseases
171901
Primary cutaneous T-cell
lymphoma
542
Primary cutaneous lymphoma
98807
Primary dystonia, DYT13 type
370103
Primary dystonia, DYT17 type
306734
Primary dystonia, DYT21 type
464440
Primary dystonia, DYT27 type
98805
Primary dystonia, DYT4 type
98806
Primary dystonia, DYT6 type
48686
Primary effusion lymphoma
117
Cases
100085
5 Cases
Pre-Descemet corneal dystrophy
Preaxial polydactyly-colobomataintellectual disability syndrome
Predisposition to severe viral
574918
infection due to IRF7 deficiency
2 Cases
2921
Preeclampsia
486811
Prenatal-onset spinal muscular
atrophy with congenital bone
fractures
169464
Primary CD59 deficiency
289390
Primary Sjögren syndrome
289390
Primary Sjögren syndrome
186
Primary biliary cholangitis
186
Primary biliary cholangitis
186
Primary biliary cholangitis
186
Primary biliary cholangitis
244
Primary ciliary dyskinesia
247522
226295
541
171901
Primary ciliary dyskinesiaretinitis pigmentosa syndrome
Primary congenital
hypothyroidism
Primary cutaneous CD30+ T-cell
lymphoproliferative disease
Primary cutaneous T-cell
lymphoma
8 Cases
3 Cases
16 Cases
5 Cases
22 Cases
53 Cases
200
Cases
3.1 BP*
Prader-Willi-like syndrome
275555
0.75 I*
16 Cases
369929
293462
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
24.0 P*
1 Family
45.0 P*
7 Cases
2232
93599
Primary hyperoxaluria type 2
93600
Primary hyperoxaluria type 3
564178
Primary hypomagnesemia with
refractory seizures and
intellectual disability
30924
Primary hypomagnesemia with
secondary hypocalcemia
6 Cases
48.99 P*
6.92 I
Primary hepatic neuroendocrine
carcinoma
Primary hyperaldosteronismseizures-neurological
abnormalities syndrome
Primary hypergonadotropic
hypogonadism-partial alopecia
syndrome
90023
2.57 I*
75391
3.0 I
431166
25.0 P*
458768
5.0 BP*
35689
Primary lateral sclerosis
77240
Primary lymphedema
37.5 P*
98838
0.18 I*
54370
5.2 I*
97560
2 Cases
7 Cases
10 Cases
50 Cases
3 Cases
100
Cases
Primary immunodeficiency
syndrome due to LAMTOR2
deficiency
Primary immunodeficiency with
natural-killer cell deficiency and
adrenal insufficiency
Primary immunodeficiency with
post-measles-mumps-rubella
vaccine viral infection
Primary intralymphatic
angioendothelioma
21.05 P
20 Cases
0.2 I
Primary mediastinal large B-cell
lymphoma
Primary membranoproliferative
glomerulonephritis
Primary membranous
glomerulonephritis
4 Cases
4 Cases
1 Case
30 Cases
1.5 P*
16.7 P*
5.0 P*
16.0 P*
0.8103 I
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
73
ORPHACod
e
97560
306558
391408
Disease
or Group of diseases
Primary membranous
glomerulonephritis
Primary microcephaly-epilepsypermanent neonatal diabetes
syndrome
Primary microcephaly-mild
intellectual disability-youngonset diabetes syndrome
824
Primary myelofibrosis
824
Primary myelofibrosis
238606
Primary orthostatic tremor
189439
Primary pigmented nodular
adrenocortical disease
95432
Primary progressive aphasia
314566
Primary progressive apraxia of
speech
171
171
171
171
314701
854
2959
300382
435953
Primary sclerosing cholangitis
Primary sclerosing cholangitis
Primary sclerosing cholangitis
Primary sclerosing cholangitis
Primary systemic amyloidosis
Primitive portal vein thrombosis
Progeria-short staturepigmented nevi syndrome
Progeroid and marfanoid aspectlipodystrophy syndrome
Progeroid featureshepatocellular carcinoma
predisposition syndrome
2963
Progeroid syndrome, Petty type
448251
Progressive autosomal recessive
ataxia-deafness syndrome
75373
139447
247198
431361
Progressive bifocal chorioretinal
atrophy
Progressive cavitating
leukoencephalopathy
Progressive cerebello-cerebral
atrophy
Progressive encephalopathy with
leukodystrophy due to DECR
deficiency
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.9194 I*
8 Cases
8 Cases
ORPHACod
e
457212
352447
1.0 I*
480483
3.0 P*
480476
390
Cases
477814
0.04 P*
263516
7.0 P
16 Cases
402082
280620
0.77 I*
435438
8.1 P
424027
7.84 P*
457265
0.65 I
352596
30.0 P*
1.72 I*
11 Cases
7 Cases
Progressive non-fluent aphasia
352718
1 Case
447977
13 Cases
228012
457395
7 Cases
2 Cases
6 Cases
14 Cases
4 Cases
9 Cases
9
Families
Progressive myoclonic epilepsy
type 5
Progressive myoclonic epilepsy
type 6
Progressive myoclonic epilepsy
type 7
Progressive myoclonic epilepsy
type 8
Progressive myoclonic epilepsy
type 9
Progressive myoclonic epilepsy
with dystonia
100070
2062
5 Cases
Progressive myoclonic epilepsy
type 3
Progressive non-fluent aphasia
3 Cases
19 Cases
Progressive essential tremorspeech impairment-facial
dysmorphism-intellectual
disability-abnormal behavior
syndrome
Progressive external
ophthalmoplegia-myopathyemaciation syndrome
Progressive familial intrahepatic
cholestasis type 4
Progressive familial intrahepatic
cholestasis type 5
Progressive microcephalyseizures-cortical blindnessdevelopmental delay syndrome
100070
217396
2
Families
Disease
or Group of diseases
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3 Cases
12 Cases
13 Cases
4 Cases
2 Cases
5 Cases
2.5 P*
0.7 I*
Progressive non-infectious
anterior vertebral fusion
Progressive polyneuropathy with
bilateral striatal necrosis
Progressive retinal dystrophy
due to retinol transport defect
Progressive
scapulohumeroperoneal distal
myopathy
Progressive sensorineural
hearing loss-hypertrophic
cardiomyopathy syndrome
Progressive
spondyloepimetaphyseal
dysplasia-short stature-short
fourth metatarsals-intellectual
disability syndrome
683
Progressive supranuclear palsy
683
Progressive supranuclear palsy
683
Progressive supranuclear palsy
67 Cases
4 Cases
5 Cases
33 Cases
4
Families
4 Cases
0.65 I
14.0 P*
5.26 P
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
74
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Progressive supranuclear palsy0.6 P*
240103
corticobasal syndrome
Progressive supranuclear palsy10 Cases
240112 progressive non-fluent aphasia
syndrome
90 Cases
742
Prolidase deficiency
2083
Prominent glabellamicrocephaly-hypogenitalism
syndrome
35
Propionic acidemia
35
Propionic acidemia
324977
Proteasome-associated
autoinflammatory syndrome
251598
Protoplasmic astrocytoma
261197
401768
521305
Proximal 16p11.2 microdeletion
syndrome
Proximal myopathy with
extrapyramidal signs
Proximal myopathy with focal
depletion of mitochondria
606
Proximal myotonic myopathy
70
Proximal spinal muscular atrophy
70
Proximal spinal muscular atrophy
83330
83418
Proximal spinal muscular atrophy
type 1
Proximal spinal muscular atrophy
type 2
52530
Pseudo-von Willebrand disease
750
Pseudoachondroplasia
221120
Pseudoaminopterin syndrome
85174
Pseudodiastrophic dysplasia
757
Pseudohypoaldosteronism type 2
300525
300530
2976
1.5 I
Pseudomyxoma peritonei
26790
Pseudomyxoma peritonei
Pseudoprogeria syndrome
Disease
or Group of diseases
758
Pseudoxanthoma elasticum
436274
280794
85436
505242
0.2 P*
1578
40 Cases
2988
0.01 I*
2999
20.0 P*
15 Cases
228396
4 Cases
2997
1.0 P*
182090
2.6 I*
275803
20.0 BP*
0.26 I*
275798
2.0 BP*
2038
60 Cases
Pseudoxanthoma elasticum-like
skin manifestations with retinitis
pigmentosa
Pseudoxanthomatous diffuse
cutaneous mastocytosis
Psoriasis-related juvenile
idiopathic arthritis
Psychomotor regressionoculomotor apraxia-movement
disorder-nephropathy syndrome
Pterin-4 alpha-carbinolamine
dehydratase deficiency
Pterygium colli-intellectual
disability-digital anomalies
syndrome
Ptosis-strabismus-ectopic pupils
syndrome
Ptosis-upper ocular movement
limitation-absence of lacrimal
punctum syndrome
Ptosis-vocal cord paralysis
syndrome
Pulmonary arterial hypertension
Pulmonary arterial hypertension
associated with congenital heart
disease
Pulmonary arterial hypertension
associated with connective tissue
disease
Pulmonary arteriovenous
malformation
64741
Pulmonary blastoma
199241
Pulmonary capillary
hemangiomatosis
13 Cases
10 Cases
4.2 P*
6 Cases
21 Cases
2 Cases
1 Family
3 Cases
2 Cases
2.0 P*
0.57 P*
0.25 P*
2.5 I
350
Cases
3.3 P
11 Cases
13 Cases
Pseudohypoaldosteronism type
2D
Pseudohypoaldosteronism type
2E
Pseudoleprechaunism syndrome,
Patterson type
26790
2985
2 Cases
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2.5 P*
210136
Pulmonary fibrosis-hepatic
hyperplasia-bone marrow
hypoplasia syndrome
Pulmonary fungal infections in
patients deemed at risk
Pulmonary non-tuberculous
mycobacterial infection
180
Cases
217080
24 Cases
411703
17 Cases
31837
Pulmonary venoocclusive disease
2 Cases
99710
Punctate acrokeratoderma
freckle-like pigmentation
79501
Punctate palmoplantar
keratoderma type 1
0.1 I
2.0 P*
79502
2 Cases
69084
Punctate palmoplantar
keratoderma type 2
Pure hair and nail ectodermal
dysplasia
100
Cases
4 Cases
22.0 P*
6.0 P*
0.015 I*
7 Cases
35
Families
13 Cases
20 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
75
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
Purine nucleoside phosphorylase
72 Cases
760
deficiency
0.13 P
763
Pycnodysostosis
3003
Pyknoachondrogenesis
3005
Pyle disease
48104
Pyoderma gangrenosum
289478
69126
2561
3006
3008
353320
2394
Pyruvate carboxylase deficiency
30 Cases
0.74 I
Q fever
3010
Qazi-Markouizos syndrome
3021
RAPADILINO syndrome
420741
217335
544503
2252
3026
70475
3270
Ramos-Arroyo syndrome
293987
Rapid-onset childhood obesityhypothalamic dysfunctionhypoventilation-autonomic
dysregulation syndrome
71517
Rapid-onset dystoniaparkinsonism
5 Cases
213528
Rare adenocarcinoma of the
breast
20 Cases
217074
Rare carcinoma of pancreas
217074
Rare carcinoma of pancreas
3 Cases
217074
Rare carcinoma of pancreas
20 Cases
217074
Rare carcinoma of pancreas
4 Cases
217074
Rare carcinoma of pancreas
0.4 BP*
0.16 I*
20 Cases
21 Cases
63443
Rare epithelial tumor of stomach
2415
Rare lymphatic malformation
182114
Rare urogenital tumor
10 Cases
1929
Rasmussen subacute encephalitis
3 Cases
99852
Ravine syndrome
8 Cases
461
Recessive X-linked ichthyosis
461
Recessive X-linked ichthyosis
79409
Recessive dystrophic
epidermolysis bullosa inversa
4 Cases
2 Cases
RIN2 syndrome
RNF13-related severe early-onset
epileptic encephalopathy
Radial hypoplasia-triphalangeal
thumbs-hypospadias-maxillary
diastema syndrome
Radial ray hypoplasia-choanal
atresia syndrome
3 Cases
35.0 P*
535
Rare congenital non-syndromic
heart malformation
Rare cutaneous lupus
erythematosus
Rare epithelial tumor of stomach
8 Cases
RIDDLE syndrome
88991
63443
10 Cases
RHYNS syndrome
Radio-ulnar synostosisamegakaryocytic
thrombocytopenia syndrome
Radioulnar synostosisdevelopmental delay-hypotonia
syndrome
Radioulnar synostosismicrocephaly-scoliosis syndrome
1051
0.2 BP*
RFT1-CDG
Radiation proctitis
71289
Ramon syndrome
8 Cases
RARS-related autosomal
recessive hypomyelinating
leukodystrophy
RAS-associated autoimmune
268114
leukoproliferative disease
REN-related autosomal dominant
217330
tubulointerstitial kidney disease
RERE-related
494344
neurodevelopmental syndrome
140976
Radio-renal syndrome
3019
53 Cases
438114
244310
3015
3268
36 Cases
Pyruvate carboxylase deficiency,
benign type
Pyruvate dehydrogenase E3
deficiency
781
Disease
or Group of diseases
5 Cases
Pyoderma gangrenosum-acnesuppurative hidradenitis
syndrome
Pyogenic arthritis-pyoderma
gangrenosum-acne syndrome
Pyramidal molars-abnormal
upper lip syndrome
Pyridoxine-dependent epilepsy
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4 Cases
20 Cases
4 Cases
13 Cases
8 Cases
6 Cases
96 Cases
100
Cases
3.55 I*
11.79 I*
15.5 P*
3.5 P
8.3
3.9 I
7.8 BP*
50.0 P*
18.6 I*
49.17
12.5 P*
0.13 I*
100
Cases
38 Cases
15.0 I*
16.6 P*
100
Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
76
ORPHACod
e
280384
90052
480864
97239
86839
168960
Disease
or Group of diseases
Recessive intellectual disabilitymotor dysfunction-multiple joint
contractures syndrome
Recurrent hepatitis C virus
induced liver disease in liver
transplant recipients
Recurrent metabolic
encephalomyopathic crisesrhabdomyolysis-cardiac
arrhythmia-intellectual disability
syndrome
Refractory anemia with excess
blasts
Refractory anemia with excess
blasts in transformation
Refsum disease
773
Refsum disease
83450
Regional odontodysplasia
448267
Regressive spondylometaphyseal
dysplasia
98961
Reis-Bücklers corneal dystrophy
728
Relapsing polychondritis
1848
Renal agenesis, bilateral
93100
Renal agenesis, unilateral
2838
Renal caliceal diverticulideafness syndrome
217071
Renal cell carcinoma
217071
Renal cell carcinoma
1475
Renal coloboma syndrome
3242
566231
99832
1662
33355
12 Cases
7.0 P*
Renal dysplasia
458763
Retiform hemangioendothelioma
75326
Retinal arterial tortuosity
1574
4
Families
397758
0.15 I*
3018
0.04 I*
32 Cases
100
Cases
Retinal degenerationnanophthalmos-glaucoma
syndrome
Retinal dystrophy with inner
retinal dysfunction and ganglion
cell anomalies
Retinal ischemic syndromedigestive tract small vessel
hyalinosis-diffuse cerebral
calcifications syndrome
7 Cases
14 Cases
3 Cases
0.1 P*
319640
Retinal macular dystrophy type 2
791
Retinitis pigmentosa
791
Retinitis pigmentosa
5
Families
60 Cases
140
Cases
2 Cases
81 Cases
494439
0.35 I
3085
1.7 BP*
436245
50.0 BP
4 Cases
Retinitis punctata albescens
42.0 P*
52427
Retinitis punctata albescens
8.35 I*
790
Retinoblastoma
790
Retinoblastoma
790
Retinoblastoma
778
Rett syndrome
778
Rett syndrome
3088
Revesz syndrome
69077
Rhabdoid tumor
780
Rhabdomyosarcoma
3099
Rheumatic fever
180
Cases
43.5 BP*
64 Cases
Renpenning syndrome
30.0 P*
26.7 P
Retinitis pigmentosa-hearing
loss-premature aging-short
stature-facial dysmorphism
syndrome
Retinitis pigmentosa-intellectual
disability-deafnesshypogonadism syndrome
Retinitis pigmentosa-juvenile
cataract-short statureintellectual disability syndrome
52427
Resistance to thyroid hormone
due to a mutation in thyroid
hormone receptor alpha
Resistance to thyrotropinreleasing hormone syndrome
3 Cases
2
Families
3 Cases
0.125 P
0.175 P*
0.05 I*
6.0 BP
1.05
5.0 BP*
10.0 P*
35 Cases
4 Cases
500
Cases
2 Cases
30 Cases
Restrictive dermopathy
Reticular dysgenesis
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
130
Reticulate acropigmentation of
178307
Cases
Kitamura
24 Cases
Reducing body myopathy
773
93108
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.03 I*
0.59 I*
5.0 I*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
77
ORPHACod
e
85408
85435
177
468717
2831
3098
Disease
or Group of diseases
Rheumatoid factor-negative
polyarticular juvenile idiopathic
arthritis
Rheumatoid factor-positive
polyarticular juvenile idiopathic
arthritis
Rhizomelic chondrodysplasia
punctata
Rhizomelic chondrodysplasia
punctata type 5
Rhizomelic dysplasia, PattersonLowry type
Rhizomelic syndrome, Urbach
type
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
8.0 P*
ORPHACod
e
Disease
or Group of diseases
96172
Ring chromosome 3 syndrome
1447
Ring chromosome 4 syndrome
1448
Ring chromosome 6 syndrome
1449
Ring chromosome 7 syndrome
1450
Ring chromosome 8 syndrome
96173
Ring chromosome 9 syndrome
91481
Ring dermoid of cornea
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
11 Cases
20 Cases
4.2 P*
1.0 P*
4 Cases
5 Cases
3 Cases
25 Cases
18 Cases
8 Cases
31 Cases
30 Cases
59315
Rhombencephalosynapsis
100
Cases
3103
Roberts syndrome
97229
Riboflavin transporter deficiency
109
Cases
3104
Robin sequence-oligodactyly
syndrome
440706
Ribose-5-P isomerase deficiency
1 Case
97360
Robinow syndrome
3102
Richieri Costa-Pereira syndrome
353298
Roifman syndrome
3101
Richieri Costa-da Silva syndrome
163727
Rolandic epilepsy-paroxysmal
exercise-induced dystoniawriter's cramp syndrome
101016
Romano-Ward syndrome
158014
Rosaï-Dorfman disease
1000
Cases
2909
Rothmund-Thomson syndrome
400
Cases
221008
Rothmund-Thomson syndrome
type 1
80 Cases
221016
Rothmund-Thomson syndrome
type 2
50 Cases
3111
Rotor syndrome
10 Cases
83616
Rubella panencephalitis
18 Cases
783
Rubinstein-Taybi syndrome
70 Cases
353284
10 Cases
88618
83312
Rickettsialpox
363203
Ring chromosome
1437
Ring chromosome 1 syndrome
1438
Ring chromosome 10 syndrome
96175
Ring chromosome 11 syndrome
1439
Ring chromosome 12 syndrome
1440
Ring chromosome 14 syndrome
96177
Ring chromosome 15 syndrome
96178
Ring chromosome 16 syndrome
1441
Ring chromosome 17 syndrome
1442
Ring chromosome 18 syndrome
1443
Ring chromosome 19 syndrome
96171
Ring chromosome 2 syndrome
1444
Ring chromosome 20 syndrome
1446
Ring chromosome 22 syndrome
33 Cases
4 Cases
800
Cases
150
Cases
3 Cases
200
Cases
17 Cases
1 Family
40.0 P*
2.0 BP
35 Cases
16 Cases
20 Cases
10 Cases
18 Cases
251028
50 Cases
100
Cases
Rubinstein-Taybi syndrome due
to EP300 haploinsufficiency
S-adenosylhomocysteine
hydrolase deficiency
SATB2-associated syndrome due
to a chromosomal
rearrangement
370052
SCALP syndrome
3134
SCARF syndrome
100
Cases
200
Cases
50 Cases
20 Cases
0.7 BP*
34 Cases
15 Cases
20 Cases
4 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
78
ORPHACod
e
Disease
or Group of diseases
139466
SERKAL syndrome
3163
SHORT syndrome
398079
488437
SLC35A1-CDG
356961
SLC35A2-CDG
157965
SLC39A13-related
spondylodysplastic Ehlers-Danlos
syndrome
466962
1519
93357
SSR4-CDG
STT3A-CDG
370924
STT3B-CDG
599373
STXBP1-related encephalopathy
57145
SUNCT syndrome
544254
397927
4 Cases
8 Cases
10 Cases
19 Cases
25 Cases
16 Cases
7
Families
9 Cases
STAG1-related intellectual
disability-facial dysmorphismgastroesophageal reflux
syndrome
STAT3-related early-onset
multisystem autoimmune
disease
STING-associated vasculopathy
with onset in infancy
370921
391351
3 Cases
SPONASTRIME dysplasia
370927
425120
1 Family
SLC39A8-CDG
SRD5A3-CDG
438159
4 Cases
SMARCA4-deficient sarcoma of
thorax
SPECC1L-related hypertelorism
syndrome
324737
502434
32 Cases
SIM1-related Prader-Willi-like
syndrome
SIX2-related frontonasal
dysplasia
238459
468699
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3 Cases
17 Cases
Saethre-Chotzen syndrome
300493
Sagliker syndrome
Disease
or Group of diseases
140969
Saldino-Mainzer syndrome
213557
Salivary gland type cancer of the
breast
796
Sandhoff disease
79269
Sanfilippo syndrome type A
79269
Sanfilippo syndrome type A
79270
Sanfilippo syndrome type B
79271
Sanfilippo syndrome type C
797
Sarcoidosis
3129
Sarcosinemia
3130
Satoyoshi syndrome
3132
Say-Barber-Miller syndrome
3133
Say-Field-Coldwell syndrome
1003
Scalp defects-postaxial
polydactyly syndrome
2036
Scalp-ear-nipple syndrome
431255
90080
Scapuloperoneal spinal muscular
atrophy
Scarring in glaucoma filtration
surgical procedures
0.05 I*
0.67 BP*
0.32 P*
1.4 BP
0.2 P*
5.0 P*
20.0 P*
2.0 BP
50 Cases
4 Cases
4 Cases
2 Cases
30 Cases
31 Cases
22.0 P*
18 Cases
19 Cases
2353
Schilbach-Rott syndrome
9 Cases
1830
Schimke immuno-osseous
dysplasia
2 Cases
798
Schinzel-Giedion syndrome
1 Case
37748
Schnitzler syndrome
150
Cases
282
Cases
98967
Schnyder corneal dystrophy
115
Cases
800
Schwartz-Jampel syndrome
129
Cases
50944
Schöpf-Schulz-Passarge
syndrome
185
Scimitar syndrome
801
Scleroderma
801
Scleroderma
71 Cases
46 Cases
6.7 P*
SURF1-related Charcot-MarieTooth disease type 4
SYNGAP1-related developmental
and epileptic encephalopathy
Sacral agenesis-abnormal
ossification of the vertebral
bodies-persistent notochordal
canal syndrome
794
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
13 Cases
3 Cases
57 Cases
4 Cases
3.0 BP*
25 Cases
2.0 BP*
1.41 I
42.0 P
60 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
79
ORPHACod
e
Disease
or Group of diseases
167635
Scleromyxedema
90400
Scleromyxedema without
monoclonal gammopathy
3152
Sclerosteosis
806
Scott syndrome
158029
Sea-blue histiocytosis
168606
Seborrhea-like dermatitis with
psoriasiform elements
808
Seckel syndrome
808
Seckel syndrome
67039
314662
79156
466926
Self-improving collodion baby
79411
Self-improving dystrophic
epidermolysis bullosa
ORPHACod
e
357237
15 Cases
228003
80 Cases
4 Cases
420573
60 Cases
317425
44 Cases
50 Cases
0.2 BP*
Segmental odontomaxillary
dysplasia
Segmental progressive
overgrowth syndrome with
fibroadipose hyperplasia
Seizures-intellectual disability
due to hydroxylysinuria
syndrome
Seizures-scoliosis-macrocephaly
syndrome
281122
3156
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
250
Cases
169095
397787
32 Cases
504523
10 Cases
280142
6 Cases
10 Cases
25 Cases
277
277
30 Cases
150
Cases
Senior-Loken syndrome
331206
300298
217622
Sensorineural deafness with
dilated cardiomyopathy
66633
Sensorineural hearing loss-early
graying-essential tremor
syndrome
90051
Sepsis in premature infants
3157
Septo-optic dysplasia spectrum
157798
Serrated polyposis syndrome
3078
238329
85165
438207
183660
Severe X-linked intellectual
disability, Gustavson type
Severe X-linked mitochondrial
encephalomyopathy
Severe achondroplasiadevelopmental delay-acanthosis
nigricans syndrome
Severe autosomal recessive
macrothrombocytopenia
Severe combined
immunodeficiency
Severe combined
immunodeficiency due to
CARD11 deficiency
Severe combined
immunodeficiency due to
CORO1A deficiency
Severe combined
immunodeficiency due to CTPS1
deficiency
Severe combined
immunodeficiency due to DNAPKcs deficiency
Severe combined
immunodeficiency due to FOXN1
deficiency
Severe combined
immunodeficiency due to IKK2
deficiency
Severe combined
immunodeficiency due to LAT
deficiency
Severe combined
immunodeficiency due to LCK
deficiency
Severe combined
immunodeficiency due to
adenosine deaminase deficiency
Severe combined
immunodeficiency due to
adenosine deaminase deficiency
Severe combined
immunodeficiency due to
complete RAG1/2 deficiency
Severe congenital hypochromic
anemia with ringed sideroblasts
2
Families
42738
Severe congenital neutropenia
3 Cases
42738
Severe congenital neutropenia
42738
Severe congenital neutropenia
32.0 P*
369992
10.0 BP*
1.0 I
329249
7 Cases
79404
2 Cases
5 Cases
2 Cases
1.65 BP*
Disease
or Group of diseases
488627
Severe dermatitis-multiple
allergies-metabolic wasting
syndrome
Severe early-onset obesityinsulin resistance syndrome due
to SH2B1 deficiency
Severe generalized junctional
epidermolysis bullosa
Severe growth deficiencystrabismus-extensive dermal
melanocytosis-intellectual
disability syndrome
169802
Severe hemophilia A
169793
Severe hemophilia B
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3 Cases
9 Cases
12 Cases
2 Cases
9 Cases
9 Cases
3 Cases
4 Cases
0.3 BP*
0.2 P*
1.0 P*
3 Cases
0.4 BP*
0.07 P
0.4 P*
3 Cases
13 Cases
0.17 BP
3 Cases
2.8 P*
0.8 P*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
80
ORPHACod
e
745
467176
280763
466688
94066
436141
363686
397933
404473
391307
324307
1236
369939
527450
314655
397593
209370
363400
Disease
or Group of diseases
Severe hereditary thrombophilia
due to congenital protein C
deficiency
Severe hypotonia-psychomotor
developmental delay-strabismuscardiac septal defect syndrome
Severe intellectual disability and
progressive spastic paraplegia
Severe intellectual disabilitycorpus callosum agenesis-facial
dysmorphism-cerebellar ataxia
syndrome
Severe intellectual disabilityepilepsy-anal anomalies-distal
phalangeal hypoplasia
Severe intellectual disabilityhypotonia-strabismus-coarse
face-planovalgus syndrome
Severe intellectual disabilitypoor language-strabismusgrimacing face-long fingers
syndrome
Severe intellectual disabilityprogressive postnatal
microcephaly-midline stereotypic
hand movements syndrome
Severe intellectual disabilityprogressive spastic diplegia
syndrome
Severe intellectual disabilityshort stature-behavioral
abnormalities-facial
dysmorphism syndrome
Severe lateral tibial bowing with
short stature
Severe microbrachycephalyintellectual disability-athetoid
cerebral palsy syndrome
Severe motor and intellectual
disabilities-sensorineural
deafness-dystonia syndrome
Severe myopia-generalized joint
laxity-short stature syndrome
Severe neonatal hypotoniaseizures-encephalopathy
syndrome due to 5q31.3
microdeletion
Severe neonatal lactic acidosis
due to NFS1-ISD11 complex
deficiency
Severe neonatal-onset
encephalopathy with
microcephaly
Severe neurodegenerative
syndrome with lipodystrophy
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
ORPHACod
e
0.16 BP
500545
6 Cases
2715
15 Cases
6 Cases
2 Cases
6 Cases
Sex cord-stromal tumor of testis
363489
Sex cord-stromal tumor of testis
810
Shigellosis
99063
Shone complex
104008
Short bowel syndrome
498497
93269
3 Cases
314811
4 Cases
629
2867
3 Cases
2 Cases
435804
397623
2 Cases
464288
7 Cases
2994
5 Cases
2866
7 Cases
314394
5 Cases
30 Cases
Severe neurodevelopmental
disorder with feeding difficultiesstereotypic hand movementbilateral cataract
Severe oculo-renal-cerebellar
syndrome
363489
66518
4 Cases
Disease
or Group of diseases
391677
85442
10 Cases
589442
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Short fifth metacarpals-insulin
resistance syndrome
Short rib-polydactyly syndrome
type 5
Short rib-polydactyly syndrome,
Majewski type
Short stature due to GHSR
deficiency
Short stature due to growth
hormone qualitative anomaly
Short stature, Brussels type
Short stature-advanced bone
age-early-onset osteoarthritis
syndrome
Short stature-auditory canal
atresia-mandibular hypoplasiaskeletal anomalies syndrome
Short stature-brachydactylyobesity-global developmental
delay syndrome
Short stature-craniofacial
anomalies-genital hypoplasia
syndrome
Short stature-deafnessneutrophil dysfunctiondysmorphism syndrome
Short stature-onychodysplasiafacial dysmorphismhypotrichosis syndrome
Short stature-optic atrophyPelger-Huët anomaly syndrome
Short stature-pituitary and
cerebellar defects-small sella
turcica syndrome
Short stature-skeletal dysplasiaretinal degeneration-intellectual
disability-sensorineural hearing
loss syndrome
6 Cases
5 Cases
0.02 I*
0.44
1.68 I*
100
Cases
2.0 P*
6 Cases
2 Cases
34 Cases
8 Cases
3 Cases
2 Cases
3
Families
4 Cases
6 Cases
3
Families
2 Cases
14 Cases
39 Cases
5
Families
7 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
81
ORPHACod
e
2868
2865
2863
2832
357175
935
Disease
or Group of diseases
Short stature-valvular heart
disease-characteristic facies
syndrome
Short stature-webbed neck-heart
disease syndrome
Short stature-wormian bonesdextrocardia syndrome
Short tarsus-absence of lower
eyelashes syndrome
Short ulna-dysmorphismhypotonia-intellectual disability
syndrome
Short-limb skeletal dysplasia
with severe combined
immunodeficiency
2462
Shprintzen-Goldberg syndrome
811
Shwachman-Diamond syndrome
811
309294
3166
Shwachman-Diamond syndrome
Sialidosis
Sickle cell anemia
3167
Siegler-Brewer-Carey syndrome
71276
Silent sinus syndrome
813
3 Cases
4 Cases
3 Cases
11 Cases
4 Cases
19 Cases
60 Cases
0.5 BP
0.28 P
0.05 BP*
5 Cases
Sialuria
232
3168
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Silver-Russell syndrome
813
Silver-Russell syndrome
397590
Silver-Russell syndrome due to a
point mutation
373
Simpson-Golabi-Behmel
syndrome
85191
Singleton-Merten dysplasia
324321
Sinoatrial node dysfunction and
deafness
3169
Sirenomelia
3169
Sirenomelia
3169
Sirenomelia
3169
Sirenomelia
2882
Sitosterolemia
Disease
or Group of diseases
319
Skeletal Ewing sarcoma
319
Skeletal Ewing sarcoma
508533
1858
293165
2 Cases
Small cell lung cancer
818
Smith-Lemli-Opitz syndrome
819
Smith-Magenis syndrome
819
Smith-Magenis syndrome
178355
Smith-McCort dysplasia
820
Sneddon syndrome
98 Cases
5 Cases
15.5 I*
0.7 BP*
8 Cases
250
Cases
306577
Soft tissue sarcoma
3394
Soft tissue sarcoma
424065
Solid pseudopapillary carcinoma
of pancreas
209964
Solitary rectal ulcer syndrome
97283
Somatostatinoma
821
Sotos syndrome
821
Sotos syndrome
1182
Spastic ataxia with congenital
miosis
8 Cases
2572
0.98 BP
557056
0.71 BP*
2815
0.01 P
0.009 P*
100
Cases
12 Cases
7 Cases
7 Cases
12.0 P*
3.7 BP*
4.0 P
5.35 P*
16 Cases
0.4 I*
Snowflake vitreoretinal
degeneration
Sodium channelopathy-related
small fiber neuropathy
3394
22 Cases
2.33
Skeletal dysplasia-T-cell
immunodeficiencydevelopmental delay syndrome
Skeletal dysplasia-epilepsy-short
stature syndrome
Skin fragility-woolly hairpalmoplantar keratoderma
syndrome
70573
91496
10.0 P*
Sillence syndrome
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
0.13 I*
Spastic ataxia-corneal dystrophy
syndrome
Spastic ataxia-dysarthria due to
glutaminase deficiency
Spastic paraparesis-deafness
syndrome
99015
Spastic paraplegia type 2
329475
Spastic paraplegia-Paget disease
of bone syndrome
50 Cases
8 Cases
30.0 P*
4.74 I*
0.003 I*
1.0 I*
0.0025 I*
7.1 BP
0.5 BP*
3
Families
1 Family
5 Cases
6 Cases
100
Cases
1 Family
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
82
ORPHACod
e
Disease
or Group of diseases
2819
Spastic paraplegia-facialcutaneous lesions syndrome
2818
Spastic paraplegia-glaucomaintellectual disability syndrome
521390
2820
2821
320406
2826
464282
3011
447997
Spectrin-associated autosomal
recessive cerebellar ataxia
99865
Spermatocytic seminoma
53721
1217
Spinal cord injury
98920
Spinal muscular atrophy with
respiratory distress type 1
73245
2590
Spinocerebellar ataxia type 1
98767
Spinocerebellar ataxia type 11
98762
Spinocerebellar ataxia type 12
98768
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type
15/16
98759
Spinocerebellar ataxia type 17
98771
Spinocerebellar ataxia type 18
98772
Spinocerebellar ataxia type
19/22
98756
Spinocerebellar ataxia type 2
101110
Spinocerebellar ataxia type 20
98773
Spinocerebellar ataxia type 21
101108
Spinocerebellar ataxia type 23
101111
Spinocerebellar ataxia type 25
101112
Spinocerebellar ataxia type 26
98764
Spinocerebellar ataxia type 27
208513
Spinocerebellar ataxia type 29
15 Cases
98757
Spinocerebellar ataxia type 3
45 Cases
211017
Spinocerebellar ataxia type 30
2 Cases
217012
Spinocerebellar ataxia type 31
276183
Spinocerebellar ataxia type 32
128
Cases
1955
Spinocerebellar ataxia type 34
1 Case
276193
Spinocerebellar ataxia type 35
2 Cases
276198
Spinocerebellar ataxia type 36
363710
Spinocerebellar ataxia type 37
423296
Spinocerebellar ataxia type 38
51 Cases
423275
Spinocerebellar ataxia type 40
40
Families
458798
Spinocerebellar ataxia type 41
458803
Spinocerebellar ataxia type 42
497764
Spinocerebellar ataxia type 43
4 Cases
1 Family
75 Cases
2 Cases
16 Cases
2 Cases
80 Cases
100
Families
26 Cases
12 Cases
1.5 P
20 Cases
35 Cases
4
Families
10 Cases
15 Cases
2
Families
0.03 I*
32.0 P*
Spinal muscular atrophy with
respiratory distress type 2
Spinal muscular atrophy-DandyWalker malformation-cataracts
syndrome
Spinal muscular atrophyprogressive myoclonic epilepsy
syndrome
98755
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
20
98763
Spinocerebellar ataxia type 14
Families
98769
4 Cases
Spigelian hernia-cryptorchidism
syndrome
Spinal arteriovenous metameric
syndrome
Spinal atrophy-ophthalmoplegiapyramidal syndrome
90058
404521
2
Families
Spastic paraplegia-intellectual
disability-nystagmus-obesity
syndrome
Spastic paraplegia-nephritisdeafness syndrome
Spastic paraplegia-neuropathypoikiloderma syndrome
Spastic paraplegia-optic atrophyneuropathy syndrome
Spastic paraplegia-precocious
puberty syndrome
Spastic paraplegia-severe
developmental delay-epilepsy
syndrome
Spastic tetraplegia-retinitis
pigmentosa-intellectual disability
syndrome
Spastic tetraplegia-thin corpus
callosum-progressive postnatal
microcephaly syndrome
352403
314432
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
5 Cases
10 Cases
1 Family
30 Cases
50 Cases
1.5 P
6 Cases
30
Families
1 Family
45 Cases
28 Cases
100
Families
9 Cases
4
Families
1.5 P
20 Cases
5 Cases
1 Case
25 Cases
7 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
83
ORPHACod
e
Disease
or Group of diseases
589527
Spinocerebellar ataxia type 45
589522
Spinocerebellar ataxia type 46
98766
Spinocerebellar ataxia type 5
94124
1185
3177
86854
2063
71271
488232
228387
Splenic marginal zone lymphoma
Splenogonadal fusion-limb
defects-micrognathia syndrome
Split hand-split foot-deafness
syndrome
Split-foot malformationmesoaxial polydactyly syndrome
Spondylo-megaepiphysealmetaphyseal dysplasia
Spondylo-ocular syndrome
3180
Spondylocamptodactyly
syndrome
94095
329252
Spondylocarpotarsal synostosis
Spondylocostal dysostosis-anal
atresia-genitourinary
malformation syndrome
Spondylocostal dysostosishypospadias-intellectual
disability syndrome
536471
Spondylodysplastic Ehlers-Danlos
syndrome
1855
Spondyloenchondrodysplasia
93346
Spondyloepimetaphyseal
dysplasia congenita, Strudwick
type
168454
Spondyloepimetaphyseal
dysplasia, Geneviève type
99642
370015
93356
93282
93352
1 Family
5
Families
Spinocerebellar ataxia with
axonal neuropathy type 1
Spinocerebellar ataxiadysmorphism syndrome
Spinocerebellar degenerationcorneal dystrophy syndrome
85194
3275
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
7 Cases
Spondyloepimetaphyseal
dysplasia, Handigodu type
Spondyloepimetaphyseal
dysplasia, Isidor type
Spondyloepimetaphyseal
dysplasia, Missouri type
Spondyloepimetaphyseal
dysplasia, PAPSS2 type
Spondyloepimetaphyseal
dysplasia, Shohat type
ORPHACod
e
171866
156728
168451
9 Cases
168443
3 Cases
2 Cases
0.5 P*
93358
94068
30 Cases
163665
22 Cases
137678
5 Cases
19 Cases
7 Cases
5 Cases
35 Cases
93283
163668
263482
163649
163662
3 Cases
459051
2 Cases
163654
24
Families
254
36 Cases
93315
168555
30 Cases
370019
6
Families
234
Cases
168544
93316
93317
2 Cases
168552
14 Cases
17 Cases
5 Cases
85167
589435
Disease
or Group of diseases
Spondyloepimetaphyseal
dysplasia, aggrecan type
Spondyloepimetaphyseal
dysplasia, matrilin-3 type
Spondyloepimetaphyseal
dysplasia-abnormal dentition
syndrome
Spondyloepimetaphyseal
dysplasia-hypotrichosis
syndrome
Spondyloepimetaphyseal
dysplasia-short limb-abnormal
calcification syndrome
Spondyloepiphyseal dysplasia
congenita
Spondyloepiphyseal dysplasia
tarda, Kohn type
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
3 Cases
5 Cases
2 Cases
5 Cases
27 Cases
1.0 BP*
3 Cases
13
Families
Spondyloepiphyseal dysplasia
with metatarsal shortening
Spondyloepiphyseal dysplasia,
Kimberley type
Spondyloepiphyseal dysplasia,
MacDermot type
Spondyloepiphyseal dysplasia,
Maroteaux type
Spondyloepiphyseal dysplasia,
Nishimura type
Spondyloepiphyseal dysplasia,
Reardon type
Spondyloepiphyseal dysplasia,
Stanescu type
Spondyloepiphyseal dysplasiabrachydactyly-speech disorder
syndrome
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia,
'corner fracture' type
Spondylometaphyseal dysplasia,
A4 type
Spondylometaphyseal dysplasia,
Czarny-Ratajczak type
Spondylometaphyseal dysplasia,
Golden type
Spondylometaphyseal dysplasia,
Schmidt type
Spondylometaphyseal dysplasia,
Sedaghatian type
Spondylometaphyseal dysplasiabowed forearms-facial
dysmorphism syndrome
Spondylometaphyseal dysplasiacone-rod dystrophy syndrome
Spondylometaphyseal dysplasiacorneal dystrophy syndrome
1 Family
4 Cases
10 Cases
4 Cases
1 Family
7 Cases
4 Cases
1.0 BP*
30 Cases
3 Cases
2 Cases
3 Cases
7 Cases
9 Cases
2 Cases
18 Cases
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
84
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
10
Spondyloperipheral dysplasia1856
Families
short ulna syndrome
29822
204
204
247234
586130
424996
424975
424039
424019
213767
423994
213716
99977
99977
99977
494547
494550
502366
500464
502363
500478
398058
424002
423968
418959
83484
Spontaneous periodic
hypothermia
Sporadic Creutzfeldt-Jakob
disease
Sporadic Creutzfeldt-Jakob
disease
Sporadic adult-onset ataxia of
unknown etiology
ORPHACod
e
Disease
or Group of diseases
140917
Stapes ankylosis with broad
thumbs and toes
827
Stargardt disease
438117
Steel syndrome
273
Steinert myotonic dystrophy
273
Steinert myotonic dystrophy
210115
Sterile multifocal osteomyelitis
with periostitis and pustulosis
0.032 I*
2017
Sternal cleft
0.009 I*
3196
Steroid dehydrogenase
deficiency-dental anomalies
syndrome
36426
Stevens-Johnson syndrome
95455
Stevens-Johnson syndrome/toxic
epidermal necrolysis spectrum
828
Stickler syndrome
828
Stickler syndrome
2833
Stiff skin syndrome
3199
Stimmler syndrome
3204
Stormorken-Sjaastad-Langslet
syndrome
506307
Stromme syndrome
3205
Sturge-Weber syndrome
3206
Stüve-Wiedemann syndrome
3191
Subaortic stenosis-short stature
syndrome
48377
Subcorneal pustular dermatosis
98959
Subepithelial mucinous corneal
dystrophy
22
Succinic semialdehyde
dehydrogenase deficiency
50 Cases
0.088 P
0.118 I
7.6 P*
27 Cases
Sporadic fatal insomnia
Squamous cell carcinoma of
gallbladder and extrahepatic
biliary tract
Squamous cell carcinoma of liver
and intrahepatic biliary tract
Squamous cell carcinoma of
pancreas
Squamous cell carcinoma of the
anal canal
Squamous cell carcinoma of the
cervix uteri
Squamous cell carcinoma of the
colon
Squamous cell carcinoma of the
corpus uteri
Squamous cell carcinoma of the
esophagus
Squamous cell carcinoma of the
esophagus
Squamous cell carcinoma of the
esophagus
Squamous cell carcinoma of the
hypopharynx
Squamous cell carcinoma of the
larynx
Squamous cell carcinoma of the
lip
Squamous cell carcinoma of the
nasal cavity and paranasal
sinuses
Squamous cell carcinoma of the
oral cavity
Squamous cell carcinoma of the
oropharynx
Squamous cell carcinoma of the
penis
Squamous cell carcinoma of the
rectum
Squamous cell carcinoma of the
small intestine
Squamous cell carcinoma of the
stomach
St. Louis encephalitis
0.023 I*
0.81 I*
4.28 I*
0.026 I*
0.12 I*
3.357 I*
5.2 I
5.42
1.27 I*
4.61 I*
1.02 I
0.35 I
3.51 I*
3.12 I*
0.57 I*
0.113 I*
0.008 I*
0.115 I*
0.38 I*
832
168593
Succinyl-CoA:3-oxoacid CoA
transferase deficiency
Sudden infant death-dysgenesis
of the testes syndrome
498602
Sugarman brachydactyly
3210
Summitt syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
6
Families
13.0 P*
40 Cases
5.0 P*
12.5 P
17 Cases
2.0 BP*
1 Family
0.36 I*
0.19 I
1.0 BP*
12.2 BP
54 Cases
2 Cases
17 Cases
11 Cases
3.5 BP*
56 Cases
1 Family
200
Cases
1 Family
450
Cases
32 Cases
21 Cases
1 Family
3 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
85
ORPHACod
e
Disease
or Group of diseases
455
Superficial epidermolytic
ichthyosis
46485
Superficial pemphigus
247245
Superficial siderosis
141096
466695
3193
Supravalvular aortic stenosis
838
Susac syndrome
1570
1314
Sympathetic ophthalmia
3246
Symphalangism with multiple
anomalies of hands and feet
93402
Syndactyly type 1
93405
Syndactyly type 4
93406
Syndactyly type 5
357332
294026
3259
140952
85274
84064
178364
228426
98606
300
Cases
Syndactyly-camptodactyly and
clinodactyly of fifth fingers-bifid
toes syndrome
Syndactyly-nystagmus syndrome
due to 2q31.1 microduplication
Syndactyly-polydactyly-ear lobe
syndrome
Syndactyly-telecanthusanogenital and renal
malformations syndrome
Syndromic X-linked intellectual
disability 7
Syndromic diarrhea
Syndromic microphthalmia type
5
Syndromic multisystem
autoimmune disease due to Itch
deficiency
Syndromic orbital border
hypoplasia
Disease
or Group of diseases
Syndromic recessive X-linked
ichthyosis
Syndromic sensorineural
deafness due to combined
oxidative phosphorylation defect
840
Syringocystadenoma
papilliferum
3280
Syringomyelia
4.0 BP*
188
Systemic capillary leak syndrome
13.3 P*
2467
Systemic mastocytosis
2467
Systemic mastocytosis
158
Systemic primary carnitine
deficiency
90291
Systemic sclerosis
32 Cases
5 Cases
304
Cases
Susceptibility to infection due to
TYK2 deficiency
Symbrachydactyly of hands and
feet
Symmetrical thalamic
calcifications
79098
281090
457223
Supratip dysplasia
Supravalvular aortic stenosis
ORPHACod
e
1.2 P*
Supernumerary nostril
3193
331226
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
20 Cases
8 Cases
2 Cases
30 Cases
85414
85414
0.6 P*
6 Cases
25.0 BP*
169157
324294
Systemic-onset juvenile
idiopathic arthritis
Systemic-onset juvenile
idiopathic arthritis
T-B+ severe combined
immunodeficiency due to CD45
deficiency
T-cell immunodeficiency with
epidermodysplasia verruciformis
T-cell large granular lymphocyte
leukemia
4 Cases
86872
10 Cases
171918
T-cell non-Hodgkin lymphoma
26 Cases
457077
TAFRO syndrome
2 Cases
2886
TARP syndrome
10 Cases
488632
7 Cases
397959
10 Cases
488642
116
Cases
284227
TEMPI syndrome
20 Cases
363444
THOC6-related developmental
delay-microcephaly-facial
dysmorphism syndrome
10 Cases
314667
TMEM165-CDG
466703
TMEM199-CDG
562569
TMEM94-associated congenital
heart defect-facial dysmorphismdevelopmental delay syndrome
2
Families
TBCK-related intellectual
disability syndrome
TCR-alpha-beta-positive T-cell
deficiency
TELO2-related intellectual
disability-neurodevelopmental
disorder
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
1.3 P*
2 Cases
730
Cases
8.4 P*
150
Cases
0.6 I*
11.3 P*
3.2 BP*
15.4 P*
3.1 P
0.6 I
3 Cases
2 Cases
0.4 I*
0.99 I*
28 Cases
6
Families
25 Cases
2 Cases
6 Cases
10 Cases
4 Cases
6 Cases
7 Cases
10 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
86
ORPHACod
e
55595
424261
592570
369840
3287
3287
500095
329191
Disease
or Group of diseases
TNP03-related limb-girdle
muscular dystrophy D2
TOR1AIP1-related limb-girdle
muscular dystrophy
TRAF7-associated heart defectdigital anomalies-facial
dysmorphism-motor and speech
delay syndrome
TRAPPC11-related limb-girdle
muscular dystrophy R18
Takayasu arteritis
Takayasu arteritis
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
64 Cases
55 Cases
3 Cases
1.34 P*
2
Families
2 Cases
31150
Tangier disease
100
Cases
1412
Tarsal-carpal coalition syndrome
10
Families
404443
Tatton-Brown-Rahman
syndrome
845
Tay-Sachs disease
845
Tay-Sachs disease
3291
Teebi-Shaltout syndrome
352737
254516
96184
254531
254525
Temple syndrome
Temple syndrome due to
maternal uniparental disomy of
chromosome 14
Temple syndrome due to
paternal 14q32.2
hypomethylation
Temple syndrome due to
paternal 14q32.2 microdeletion
420561
Temple-Baraitser syndrome
363417
Temtamy preaxial brachydactyly
syndrome
Temtamy syndrome
66627
Tenosynovial giant cell tumor
141258
Tessier number 4 facial cleft
842
Testicular seminomatous germ
cell tumor
Testicular seminomatous germ
cell tumor
363483
Testicular teratoma
3299
Tetanus
3301
Tetraamelia-multiple
malformations syndrome
3303
Tetralogy of Fallot
3303
Tetralogy of Fallot
884
Tetrasomy 12p
96055
Tetrasomy 21
3310
Tetrasomy 9p
9
Tetrasomy X
1780
Thakker-Donnai syndrome
3312
Thalidomide embryopathy
2655
Thanatophoric dysplasia
20.0 P*
2 Cases
1.71 I*
46.01
0.04
0.024 I*
4 Cases
Talo-patello-scaphoid osteolysis
34514
1777
842
0.084 I*
Tall stature-intellectual
disability-renal anomalies
syndrome
Tall stature-scoliosismacrodactyly of the great toes
syndrome
Telecanthus-hypertelorismstrabismus-pes cavus syndrome
Telethonin-related limb-girdle
muscular dystrophy R7
Temperature-sensitive
oculocutaneous albinism type 1
Disease
or Group of diseases
3 Cases
50809
3293
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
7
Families
17 Cases
0.31 BP*
0.28 BP
5 Cases
2 Cases
16 Cases
199348
49827
10 Cases
64 Cases
Thickened earlobes-conductive
deafness syndrome
98960
Thiel-Behnke corneal dystrophy
1506
Thin ribs-tubular bonesdysmorphism syndrome
3316
Thomas syndrome
614
Thomsen and Becker disease
1861
Thoracic dysplasiahydrocephalus syndrome
3317
Thoracolaryngopelvic dysplasia
12 Cases
9 Cases
9 Cases
18 Cases
34.0 BP
29.3 BP*
4.0 BP*
13 Cases
70 Cases
50 Cases
2 Cases
0.77 P
3.5 BP*
Thiamine-responsive
encephalopathy
Thiamine-responsive
megaloblastic anemia syndrome
2405
53 Cases
5
Families
2 Cases
80 Cases
2
Families
173
Cases
2 Cases
6 Cases
1.0 P
2 Cases
10 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
87
ORPHACod
e
Disease
or Group of diseases
1803
Thoracomelic dysplasia
329319
Thrombocythemia with distal
limb defects
67044
3320
436169
54057
Thrombocytopenia with
congenital dyserythropoietic
anemia
Thrombocytopenia-absent radius
syndrome
Thrombomodulin-related
bleeding disorder
Thrombotic thrombocytopenic
purpura
2251
Thumb deformity-alopeciapigmentation anomaly syndrome
1078
Thumb stiffness-brachydactylyintellectual disability syndrome
3398
Thymic epithelial neoplasm
3326
Thymic-renal-anal-lung dysplasia
99867
Thymoma
99867
Thymoma
3327
Thyrocerebrorenal syndrome
100088
100088
100088
100088
95712
95719
Thyroid carcinoma
Thyroid carcinoma
Thyroid carcinoma
Thyroid carcinoma
Thyroid ectopia
Thyroid hemiagenesis
95720
Thyroid hypoplasia
100087
Thyroid tumor
100087
Thyroid tumor
3329
Tibial aplasia-ectrodactyly
syndrome
93322
Tibial hemimelia
609
Tibial muscular dystrophy
42665
Tietz syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2 Cases
3
Families
3
Families
ORPHACod
e
Disease
or Group of diseases
65283
Timothy syndrome
140922
Titin-related limb-girdle
muscular dystrophy R10
3338
Toriello-Carey syndrome
3339
0.5 BP*
3341
15 Cases
0.35 I
Toxic oil syndrome
2
Families
3346
Tracheal agenesis
7 Cases
3348
Tracheobronchopathia
osteochondroplastica
101028
Transaldolase deficiency
859
Transcobalamin deficiency
3 Cases
0.14 I*
570371
1.22
300293
2 Cases
99886
3.65 I*
329942
3.1 I
61.7
12.7 P
14.3 P*
Transketolase deficiency
216675
Transposition of the great
arteries
861
Treacher-Collins syndrome
3350
3.5 P
Transient antenatal Bartter
syndrome
Transient infantile
hypertriglyceridemia and
hepatosteatosis
Transient neonatal diabetes
mellitus
Transient neonatal multiple acylCoA dehydrogenase deficiency
488618
447896
25.0 P
Trichinellosis
3352
Tricho-dento-osseous syndrome
1264
Tricho-retino-dento-digital
syndrome
0.1 BP*
3351
Trichodental syndrome
6.0 P*
3353
5.0 I*
0.1 P*
2
Families
79129
3361
59 Cases
19 Cases
7 Cases
20000
Cases
2.0 BP*
400
Cases
23 Cases
40 Cases
15 Cases
11 Cases
0.3 BP*
1 Case
5 Cases
31.7 BP*
2.0 BP*
Tremor-ataxia-central
hypomyelination syndrome
Tremor-nystagmus-duodenal
ulcer syndrome
863
3.2 I
1 Family
Toriello-Lacassie-Droste
syndrome
Torticollis-keloidscryptorchidism-renal dysplasia
syndrome
227972
0.17 I*
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
49 Cases
Trichodermodysplasia-dental
alterations syndrome
Trichodysplasia-amelogenesis
imperfecta syndrome
Trichodysplasia-xeroderma
syndrome
7 Cases
17 Cases
0.06 I*
30 Cases
9 Cases
5
Families
3 Cases
1 Family
1 Family
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
88
ORPHACod
e
Disease
or Group of diseases
3363
Trichomegaly-retina pigmentary
degeneration-dwarfism
syndrome
3355
Trichorhinophalangeal syndrome
type 1 and 3
502
Trichorhinophalangeal syndrome
type 2
33364
Trichothiodystrophy
1209
565612
3368
3365
3369
868
Trichothiodystrophy
Tricuspid atresia
Disease
or Group of diseases
1742
Trisomy 5p
1752
Trisomy 8q
236
Trisomy 9p
3375
Trisomy X
88629
Tritanopia
3384
Truncus arteriosus
0.12 BP*
3384
Truncus arteriosus
4.2 BP*
3389
Tuberculosis
3389
Tuberculosis
3389
Tuberculosis
14 Cases
4 Cases
100
Cases
100
Cases
201
Cases
200
Cases
Triglyceride deposit
cardiomyovasculopathy
Trigonocephaly-bifid nose-acral
anomalies syndrome
Trigonocephaly-broad thumbs
syndrome
Trigonocephaly-short staturedevelopmental delay syndrome
Triose phosphate-isomerase
deficiency
2950
Triphalangeal thumbpolysyndactyly syndrome
2947
Triphalangeal thumbsbrachyectrodactyly syndrome
869
ORPHACod
e
Trichoodontoonychial dysplasia
77258
33364
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2 Cases
2 Cases
Triploidy
171929
Trisomy 10p
1699
Trisomy 12p
1699
Trisomy 12p
3378
Trisomy 13
3380
Trisomy 18
3380
Trisomy 18
1715
Trisomy 18p
261344
Trisomy 1q
1738
Trisomy 4p
467166
30 Cases
150
Cases
42.5 P*
4.8 P*
4.3 BP
4.8 BP*
139.0 I
9.0 I*
16.0 P*
Tubular renal diseasecardiomyopathy syndrome
Tubulinopathy-associated
dysgyria
2 Cases
7 Cases
3 Cases
1063
Tufted angioma
3392
Tularemia
3392
Tularemia
32960
Tumor necrosis factor receptor 1
associated periodic syndrome
182130
Tumor of endocrine glands
182130
Tumor of endocrine glands
363472
Tumor of testis and paratestis
363472
Tumor of testis and paratestis
881
Turner syndrome
99745
Typhoid
882
Tyrosinemia type 1
28378
Tyrosinemia type 2
25 Cases
69723
Tyrosinemia type 3
18 Cases
481665
USP18 deficiency
85 Cases
178338
UV-sensitive syndrome
200
Cases
50 Cases
15
Families
4
Families
100
Cases
Triple A syndrome
3376
73224
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
40 Cases
12.6 BP*
50 Cases
40 Cases
2.0 BP
3.7 BP*
16.7 BP
10.4 BP*
0.2 I*
2.0 P*
0.1 P*
3.75 I*
64.0 P*
3.15 I*
87.77
5.5 BP*
3.0 I*
0.9 BP
150
Cases
20 Cases
5 Cases
7 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
89
ORPHACod
e
Disease
or Group of diseases
3403
Uhl anomaly
3403
3404
2249
1837
1122
3138
52056
3405
167714
418951
424970
423786
2023
97363
97363
Uhl anomaly
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
84 Cases
3 Cases
Ulna hypoplasia-intellectual
disability syndrome
Ulna metaphyseal dysplasia
syndrome
Ulnar hypoplasia-split foot
syndrome
2 Cases
3 Cases
Univentricular heart
3408
Upington disease
2489
Upper limb defect-eye and ear
abnormalities syndrome
2497
Upper limb mesomelic dysplasia
3409
Urban-Rogers-Meyer syndrome
94059
Uremic pruritus
210128
Urocanic aciduria
1473
Uveal coloboma-cleft lip and
palate-intellectual disability
39044
Uveal melanoma
39044
Uveal melanoma
98715
Uveitis
98715
Uveitis
3412
VACTERL with hydrocephalus
887
VACTERL/VATER association
596753
VEXAS syndrome
466934
1 Family
88635
3417
Van den Bosch syndrome
1 Family
2460
Van den Ende-Gupta syndrome
66 Cases
314652
Variant ABeta2M amyloidosis
0.49 I*
52759
Vasculitis
0.044 I*
404553
Vasculitis due to ADA2 deficiency
0.015 I*
3424
Velo-facial-skeletal syndrome
0.211 I*
443988
0.9 I*
3429
23.2 BP
70476
Vernal keratoconjunctivitis
14.8 BP*
493342
Vibratory urticaria
7.5 BP
1493
Vici syndrome
1 Family
228379
2 Cases
73246
4 Cases
3 Cases
35.0 P*
28
79310
4 Cases
12 Cases
79312
6.25 BP*
37 Cases
VPS11-related autosomal
recessive hypomyelinating
leukodystrophy
Vacuolar myopathy with
sarcoplasmic reticulum protein
aggregates
128
Cases
Ulnar-mammary syndrome
1464
Disease
or Group of diseases
1.0 BP
Ulbright-Hodes syndrome
Ulnar/fibula ray defectbrachydactyly syndrome
Umbilical cord ulcerationintestinal atresia syndrome
Unclassified acute myeloid
leukemia
Undifferentiated carcinoma of
esophagus
Undifferentiated carcinoma of
liver and intrahepatic biliary tract
Undifferentiated carcinoma of
stomach
Undifferentiated pleomorphic
sarcoma
Unilateral multicystic dysplastic
kidney
Unilateral multicystic dysplastic
kidney
ORPHACod
e
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
10
Families
13 Cases
4 Cases
1 Family
29 Cases
5 Cases
6.3 P*
48 Cases
2 Cases
Ventriculomegaly-cystic kidney
disease
Verloove Vanhorick-Brubakk
syndrome
11 Cases
2 Cases
32.0 P*
37 Cases
50 Cases
Virus-associated trichodysplasia
spinulosa
Visceral neuropathy-brain
anomalies-facial dysmorphismdevelopmental delay syndrome
7 Cases
2 Cases
192
Cases
Vitamin B12-responsive
methylmalonic acidemia
Vitamin B12-responsive
methylmalonic acidemia type
cblA
Vitamin B12-unresponsive
methylmalonic acidemia type
mut-
0.5 I*
3439
Von Voss-Cherstvoy syndrome
6.0
903
Von Willebrand disease
17.0 I*
166096
Von Willebrand disease type 3
38.0 P*
137583
Vulvar intraepithelial neoplasia
60 Cases
450
Cases
10 Cases
12.5 P
0.2038 P
20.0 P*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
90
Number
of
Estimated
ORPHACod
Disease
publishe
prevalence/inciden
e
or Group of diseases
d cases
ce (/100,000)
or
families
380
83453
Vulvovaginal gingival syndrome
Cases
2804
W syndrome
466943
WAC-related facial
dysmorphism-developmental
delay-behavioral abnormalities
syndrome
893
WAGR syndrome
572798
WARS2-related combined
oxidative phosphorylation defect
51636
WHIM syndrome
3466
WT limb-blood syndrome
3440
Waardenburg syndrome
ORPHACod
e
Disease
or Group of diseases
3207
White matter hypoplasia-corpus
callosum agenesis-intellectual
disability syndrome
370131
White platelet syndrome
1489
Whooping cough
3455
Wiedemann-Rautenstrauch
syndrome
319182
Wiedemann-Steiner syndrome
85446
Wild type ABeta2M amyloidosis
330001
Wild type ATTR amyloidosis
904
Williams syndrome
904
Williams syndrome
905
Wilson disease
905
Wilson disease
905
Wilson disease
3459
Wilson-Turner syndrome
906
Wiskott-Aldrich syndrome
500163
Witteveen-Kolk syndrome
1667
Wolcott-Rallison syndrome
280
Wolf-Hirschhorn syndrome
2 Cases
3463
Wolfram syndrome
48 Cases
3463
Wolfram syndrome
2 Cases
3464
Woodhouse-Sakati syndrome
6 Cases
22 Cases
0.2 BP
11 Cases
65 Cases
3
Families
0.37 BP*
895
Waardenburg syndrome type 2
3
Families
897
Waardenburg-Shah syndrome
100
Cases
Wagner disease
100
Cases
898
33226
Waldenström
macroglobulinemia
899
Walker-Warburg syndrome
280558
Warsaw breakage syndrome
568056
Warts-immunodeficiencylymphedema-anogenital
dysplasia syndrome
3447
Weaver syndrome
3448
Weaver-Williams syndrome
3449
Weill-Marchesani syndrome
3344
Weismann-Netter syndrome
99971
Well-differentiated liposarcoma
901
Wells syndrome
902
Werner syndrome
83476
West-Nile encephalitis
2475
White forelock with
malformations
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4 Cases
1 Family
8.9 I*
37 Cases
84 Cases
4.5 P*
1.72 P
10.8 BP
1.8 BP*
2.25 BP
2.02 P
6.0 P*
28 Cases
0.1 P*
0.81 I*
40 Cases
1.65 BP*
4 Cases
1.0 P
420686
100
Cases
166277
0.51 I*
Worster-Drought syndrome
178475
Wound botulism
0.5 P*
2834
Wrinkly skin syndrome
0.036 I*
53719
Wyburn-Mason syndrome
64747
X-linked Charcot-Marie-Tooth
disease
2 Cases
2.0 BP*
0.13 P
0.62 P*
25
Families
Woolly hair-palmoplantar
keratoderma syndrome
Wormian bone-multiple
fractures-dentinogenesis
imperfecta-skeletal dysplasia
3465
200
Cases
60 Cases
8 Cases
3 Cases
3.7 P*
0.1 I*
30 Cases
90 Cases
1.6 P*
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
91
ORPHACod
e
Disease
or Group of diseases
101076
X-linked Charcot-Marie-Tooth
disease type 2
101077
X-linked Charcot-Marie-Tooth
disease type 3
101078
99014
352675
75497
98863
98863
X-linked acrogigantism
95702
X-linked adrenal hypoplasia
congenita
47
X-linked agammaglobulinemia
47
X-linked agammaglobulinemia
391327
X-linked calvarial hyperostosis
329235
X-linked central congenital
hypothyroidism with late-onset
testicular enlargement
596
X-linked centronuclear myopathy
431140
1497
90001
1661
8 Cases
2
Families
X-linked distal spinal muscular
atrophy type 3
X-linked dominant
chondrodysplasia punctata
X-linked dominant
chondrodysplasia, ChassaingLacombe type
443197
500188
480880
1.0 BP
139583
1.0 P
33 Cases
8.0 BP
181
89936
0.1 P*
317476
0.22 P
2571
1 Family
364028
27 Cases
67045
0.2 P*
85273
3 Cases
85276
1 Family
85293
11 Cases
85277
10
Families
163971
6 Cases
X-linked corneal dermoid
139557
293621
9 Cases
X-linked cone dysfunction
syndrome with myopia
X-linked creatine transporter
deficiency
163966
7 Cases
X-linked cerebral-cerebellarcoloboma syndrome
X-linked colobomatous
microphthalmia-microcephalyintellectual disability-short
stature syndrome
X-linked complicated corpus
callosum dysgenesis
52503
35173
4
Families
X-linked Ehlers-Danlos syndrome
X-linked Emery-Dreifuss
muscular dystrophy
X-linked Emery-Dreifuss
muscular dystrophy
ORPHACod
e
363727
X-linked Charcot-Marie-Tooth
disease type 4
X-linked Charcot-Marie-Tooth
disease type 5
X-linked Charcot-Marie-Tooth
disease type 6
300373
163961
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
5 Cases
150
Cases
2
Families
0.25 BP*
93947
93952
85283
163937
163956
10 Cases
85322
85285
Disease
or Group of diseases
X-linked dyserythropoietic
anemia with abnormal platelets
and neutropenia
X-linked endothelial corneal
dystrophy
X-linked erythropoietic
protoporphyria
X-linked external auditory canal
atresia-dilated internal auditory
canal-facial dysmorphism
syndrome
X-linked female restricted facial
dysmorphism-short staturechoanal atresia-intellectual
disability
X-linked hereditary sensory and
autonomic neuropathy with
deafness
X-linked hypohidrotic ectodermal
dysplasia
X-linked hypophosphatemia
X-linked immunodeficiency with
magnesium defect, Epstein-Barr
virus infection and neoplasia
X-linked immunoneurologic
disorder
X-linked intellectual disability
due to GRIA3 mutations
X-linked intellectual disability
with isolated growth hormone
deficiency
X-linked intellectual disability,
Abidi type
X-linked intellectual disability,
Armfield type
X-linked intellectual disability,
Cabezas type
X-linked intellectual disability,
Cantagrel type
X-linked intellectual disability,
Cilliers type
X-linked intellectual disability,
Golabi-Ito-Hall type
X-linked intellectual disability,
Hedera type
X-linked intellectual disability,
Miles-Carpenter type
X-linked intellectual disability,
Najm type
X-linked intellectual disability,
Nascimento type
X-linked intellectual disability,
Pai type
X-linked intellectual disability,
Schimke type
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
1 Family
35 Cases
50 Cases
4 Cases
17 Cases
5
Families
0.75 BP*
1.66 P*
7 Cases
5 Cases
14 Cases
2
Families
8 Cases
6 Cases
24
Families
30 Cases
4 Cases
3 Cases
9 Cases
4 Cases
35
Families
8 Cases
1 Family
4 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
92
ORPHACod
e
85323
85286
85324
85287
3063
85325
85288
85326
163976
85290
1568
85327
85338
324410
137831
459070
163979
85280
2958
85319
480907
Disease
or Group of diseases
X-linked intellectual disability,
Seemanova type
X-linked intellectual disability,
Shashi type
X-linked intellectual disability,
Shrimpton type
X-linked intellectual disability,
Siderius type
X-linked intellectual disability,
Snyder type
X-linked intellectual disability,
Stevenson type
X-linked intellectual disability,
Stocco Dos Santos type
X-linked intellectual disability,
Stoll type
X-linked intellectual disability,
Van Esch type
X-linked intellectual disability,
Wilson type
X-linked intellectual disabilityDandy-Walker malformationbasal ganglia disease-seizures
syndrome
X-linked intellectual disabilityacromegaly-hyperactivity
syndrome
X-linked intellectual disabilityataxia-apraxia syndrome
X-linked intellectual disabilitycardiomegaly-congestive heart
failure syndrome
X-linked intellectual disabilitycerebellar hypoplasia syndrome
X-linked intellectual disabilitycerebellar hypoplasia-spondyloepiphyseal dysplasia syndrome
X-linked intellectual disabilitycraniofacioskeletal syndrome
X-linked intellectual disabilitycubitus valgus-dysmorphism
syndrome
X-linked intellectual disabilitydysmorphism-cerebral atrophy
syndrome
X-linked intellectual disabilityepilepsy-progressive joint
contractures-dysmorphism
syndrome
X-linked intellectual disabilityglobal development delay-facial
dysmorphism-sacral caudal
remnant syndrome
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
4 Cases
9 Cases
ORPHACod
e
85317
3 Cases
3055
2
Families
85329
21 Cases
4 Cases
1 Family
457260
423479
4 Cases
7 Cases
85320
3 Cases
2898
10 Cases
3077
3052
2 Cases
457240
9 Cases
482606
2 Cases
14
Families
X-linked intellectual disabilityhypogammaglobulinemiaprogressive neurological
deterioration syndrome
X-linked intellectual disabilityhypogonadism-ichthyosisobesity-short stature syndrome
X-linked intellectual disabilityhypotonia-facial dysmorphismaggressive behavior syndrome
X-linked intellectual disabilityhypotonia-movement disorder
syndrome
X-linked intellectual disabilitylimb spasticity-retinal dystrophydiabetes insipidus syndrome
X-linked intellectual disabilitymacrocephaly-macroorchidism
syndrome
X-linked intellectual disabilityplagiocephaly syndrome
X-linked intellectual disabilitypsychosis-macroorchidism
syndrome
X-linked intellectual disabilityseizures-psoriasis syndrome
X-linked intellectual disabilityshort stature-overweight
syndrome
X-linked keloid scarring-reduced
joint mobility-increased optic
cup-to-disc ratio syndrome
79447
X-linked lethal multiple
pterygium syndrome
452
X-linked lissencephaly with
abnormal genitalia
2 Cases
2442
9 Cases
538931
5 Cases
538934
8 Cases
1131
2 Cases
Disease
or Group of diseases
319605
319623
14 Cases
319612
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
X-linked lymphoproliferative
disease
X-linked lymphoproliferative
disease due to SH2D1A
deficiency
X-linked lymphoproliferative
disease due to XIAP deficiency
X-linked mandibulofacial
dysostosis
X-linked mendelian susceptibility
to mycobacterial diseases
X-linked mendelian susceptibility
to mycobacterial diseases due to
CYBB deficiency
X-linked mendelian susceptibility
to mycobacterial diseases due to
IKBKG deficiency
3 Cases
4 Cases
10 Cases
38 Cases
2 Cases
12 Cases
2 Cases
6 Cases
4 Cases
20 Cases
15 Cases
6
Families
30
Families
0.05 P*
100
Cases
100
Cases
7 Cases
13 Cases
7 Cases
6 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
93
ORPHACod
e
Disease
or Group of diseases
435938
X-linked microcephaly-growth
retardation-prognathismcryptorchidism syndrome
25980
X-linked myopathy with
excessive autophagy
178461
X-linked myopathy with postural
muscle atrophy
456328
85334
85336
314978
391330
363654
54
1852
X-linked retinal dysplasia
792
X-linked retinoschisis
792
X-linked retinoschisis
86788
X-linked scapuloperoneal
muscular dystrophy
X-linked severe congenital
neutropenia
75563
X-linked sideroblastic anemia
2802
X-linked sideroblastic anemia
and spinocerebellar ataxia
1436
100997
171607
3175
85297
85292
3469
X-linked skeletal dysplasiaintellectual disability syndrome
X-linked spastic paraplegia type
16
X-linked spastic paraplegia type
34
X-linked spasticity-intellectual
disability-epilepsy syndrome
X-linked spinocerebellar ataxia
type 3
X-linked spinocerebellar ataxia
type 4
XK aprosencephaly syndrome
1770
XY type gonadal dysgenesisassociated anomalies syndrome
370930
XYLT1-CDG
910
Xeroderma pigmentosum
7
Families
90342
Xeroderma pigmentosum variant
4 Cases
220295
Xeroderma pigmentosumCockayne syndrome complex
7 Cases
261476
Xp21 deletion syndrome
314389
Xq12-q13.3 duplication
syndrome
1435
Xq21 microdeletion syndrome
521258
Xq25 microduplication syndrome
261483
Xq27.3q28 duplication syndrome
662
Yellow nail syndrome
314485
Young adult-onset distal
hereditary motor neuropathy
2828
Young-onset Parkinson disease
3472
Yunis-Varon syndrome
97240
Zebra body myopathy
217017
Zechi-Ceide syndrome
50812
Zellweger-like syndrome without
peroxisomal anomalies
3473
Zimmermann-Laband syndrome
913
Zollinger-Ellison syndrome
913
Zollinger-Ellison syndrome
178333
Åland Islands eye disease
11 Cases
3
Families
8
Families
X-linked osteoporosis with
fractures
X-linked reticulate pigmentary
disorder
Disease
or Group of diseases
18
Families
X-linked non progressive
cerebellar ataxia
X-linked parkinsonism-spasticity
syndrome
X-linked recessive ocular
albinism
ORPHACod
e
3 Cases
X-linked myotubular myopathyabnormal genitalia syndrome
X-linked neurodegenerative
syndrome, Bertini type
X-linked neurodegenerative
syndrome, Hamel type
85453
431272
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
Number
of
Estimated
publishe
prevalence/inciden
d cases
ce (/100,000)
or
families
2 Cases
2 Cases
0.23 BP*
50 Cases
30 Cases
100
Cases
3 Cases
13 Cases
28 Cases
8 Cases
5 Cases
400
Cases
0.58 BP*
6
Families
8 Cases
5.0 P
4.5 P*
22 Cases
45 Cases
200
Cases
5
Families
4 Cases
3 Cases
15.0 P*
25 Cases
10 Cases
3 Cases
2 Cases
52 Cases
0.15 I*
0.125 I
5
Families
1 Family
24 Cases
6 Cases
5 Cases
1 Family
10 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2022 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
94
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Editor-in-chief : Ana Rath – Editor of the report : Moï Yamazaki - Technical support : David Lagorce and Valérie Lanneau
The correct form when quoting this document is :
«Prevalence of rare diseases: Bibliographic data », Orphanet Report Series, Rare Diseases collection, Janvier 2022,
Number 1 : Diseases listed in alphabetical order
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it
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