Prevalence and incidence of rare diseases: Bibilographic data Number 1 |
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Number 1 | March 2016 Prevalence and incidence of rare diseases: Bibilographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org Methodology 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. This data is presented in the following reports published biannually: Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); 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 is favoured (registries, meta-analyses, population-based studies, large cohorts studies). 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. Data collection 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. A number of different sources are used : Limitations of the study Diseases listed by decreasing prevalence, incidence or number of published cases. 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 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. 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 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 2 Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) ORPHA Number 79154 79157 35701 6 67046 445038 Disease or Group of diseases 2-aminoadipic 2-oxoadipic aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 3-hydroxy-3-methylglutarylCoA synthase deficiency 3-methylcrotonyl-CoA carboxylase deficiency 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 7 Number of Estimated published prevalence/incidence cases or (/100,000) families ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 238769 1q44 microdeletion syndrome 100 Cases 363680 2p13.2 microdeletion syndrome 2 Cases 2p15p16.1 microdeletion syndrome 9 Cases 261349 163693 2p21 microdeletion syndrome 7 Cases 2p21 microdeletion syndrome without cystinuria 2 Cases 369881 20 Cases 228402 2q23.1 microdeletion syndrome 18 Cases 30 Cases 2q23.1 microduplication 313947 syndrome 2 Cases 9 Cases 2.65 BP * 20 Cases 1617 23 Cases 2q24 microdeletion syndrome 2q31.1 microduplication 294026 syndrome 2q32q33 microdeletion 251019 syndrome 2 Cases 25 Cases 251028 2q33.1 microdeletion syndrome 22 Cases 1001 20 Cases 10 Cases 2q37 microdeletion syndrome 7 3C syndrome 25 Cases 435638 3p25.3 microdeletion syndrome 8 Cases 2616 3M syndrome 200 Cases 356947 3q26q27 microdeletion syndrome 4 Cases 397695 3q27.3 microdeletion syndrome 7 Cases 238750 4q21 microdeletion syndrome 14 Cases 5p13 microduplication 329802 syndrome 7 Cases 293843 3MC syndrome 22 32 Cases 450 Cases 4-hydroxybutyric aciduria 217064 5-fluorouracil poisoning 2.0 P * 33572 5-oxoprolinase deficiency 46,XX disorder of sex 2975 development - skeletal anomalies 46,XX ovarian dysgenesis-short 444048 stature syndrome 46,XX ovotesticular disorder of 2138 sex development 46,XX testicular disorder of sex 393 development 46,XY disorder of sex development - adrenal 168558 insufficiency due to CYP11A1 deficiency 46,XY disorder of sex 753 development due to 5-alphareductase 2 deficiency 46,XY gonadal dysgenesis 168563 motor and sensory neuropathy 8 47,XYY syndrome 96263 48,XXXY syndrome 10 48,XXYY syndrome 96264 49,XXXXY syndrome 261534 49,XXXYY syndrome 293948 1p21.3 microdeletion syndrome 1p31p32 microdeletion 401986 syndrome 1q21.1 microduplication 250994 syndrome 8 Cases 228384 5q14.3 microdeletion syndrome 40 Cases 2 Cases 5q35 microduplication 228415 syndrome 14 Cases 3 Cases 251046 6p22 microdeletion syndrome 19 Cases 75857 6q terminal deletion syndrome 19 Cases 171829 6q16 deletion syndrome 12 Cases 251056 6q25 microdeletion syndrome 4 Cases 7p22.1 microduplication 314034 syndrome 2 Cases 251061 7q31 microdeletion syndrome 4 Cases 2.5 BP 2.5 P 9 Cases 50 Families 8p inverted 96092 duplication/deletion syndrome 3.9 BP * 251066 8p11.2 deletion syndrome 1.9 BP * 8p23.1 microduplication 251076 syndrome 8q12 microduplication 228399 syndrome 8q21.11 microdeletion 284160 syndrome 0.55 BP * 178303 8q22.1 microdeletion syndrome 6 Cases 50.0 BP * 1.0 BP * 3 Cases 1.72 P 4 Cases 13 Cases 6 Cases 2 Cases 324313 9p13 microdeletion syndrome 4 Cases 9 Cases 352665 9q21 microdeletion syndrome 13 Cases 5 Cases 401923 46 Cases 9q31.1q31.3 microdeletion syndrome 11p15.4 microduplication 300305 syndrome 2 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 3 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 11q22.2q22.3 microdeletion syndrome 12p12.1 microdeletion 313884 syndrome 444002 5 Cases 6 Cases 94063 12q14 microdeletion syndrome 4 Cases 13q12.3 microdeletion 412035 syndrome 14q11.2 microdeletion 261120 syndrome 14q11.2 microduplication 261229 syndrome 3 Cases 3 Cases 7 Cases 261144 14q12 microdeletion syndrome 3 Cases 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion 401935 syndrome 264200 314585 15q overgrowth syndrome 15q11.2 microdeletion 261183 syndrome 15q11q13 microduplication 238446 syndrome 15q13.3 microdeletion 199318 syndrome ORPHA Number Disease or Group of diseases 20q11.2 microdeletion syndrome 21q22.11q22.12 microdeletion 261323 syndrome 21q22.13q22.2 microdeletion 268261 syndrome 444051 567 22q11.2 deletion syndrome 10 Cases 217385 100006 ABeta amyloidosis, Dutch type 250 Cases 920 16 Cases 3 Cases 921 Abruzzo-Erickson syndrome 4 Cases 12 Cases Absence of fingerprints 1658 congenital milia Absence of the pulmonary 980 artery Absent thumb-short stature2951 immunodeficiency syndrome Absent tibia - polydactyly 3328 arachnoid cyst 11 Cases 30 Cases 246 Cases 10 Cases 139474 261272 363958 261279 254346 357001 217346 261295 17q11.2 microduplication syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19q13.11 microdeletion syndrome 20p12.3 microdeletion syndrome 313781 20p13 microdeletion syndrome 926 7.0 BP 20 Cases 10 Cases 12 Cases 50 Cases 97685 17q11 microdeletion syndrome 0.4 BP * Ablepharon macrostomia syndrome 4 Cases Acanthosis nigricans - Insulin 90301 resistance - muscle cramps acral enlargement 261250 2 Cases Aase-Smith syndrome 67043 Acanthamoeba keratitis 352629 37.5 BP Aarskog-Scott syndrome 4 Cases 261243 12 Cases 916 94065 15q24 microdeletion syndrome 261236 12 Cases 915 4 Cases 16p11.2p12.2 microdeletion syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome 17p13.3 microduplication syndrome 11 Cases 439232 AApoAIV amyloidosis 261190 15q14 microdeletion syndrome 261211 Number of Estimated published prevalence/incidence cases or (/100,000) families 170 Cases 929 Achalasia - microcephaly 931 Acheiropodia 15 3 Cases 4 Cases 5 Cases 5 Cases 10 Families Achondroplasia 4.0 BP 49382 Achromatopsia 2.7 P Acitretin/etretinate 40366 embryopathy 26 Cases 2561 8 Cases Ackerman syndrome 46487 Acquired epidermolysis bullosa 12 Cases 1.0 P * 0.09 P 91385 Acquired angioedema 7 Cases 3 Cases 48818 Aceruloplasminemia 12 Cases 6 Cases 3 Cases 3.2 P * Acquired aneurysmal 90065 subarachnoid hemorrhage 9 Cases 0.5 I * Acatalasemia 7 Cases 6.25 P * 14 Cases 10.0 P * 200 Cases 0.03 I * Acquired generalized 79086 lipodystrophy 100 Cases 73274 Acquired hemophilia 0.1 P * 73274 Acquired hemophilia 0.08 I Acquired hypertrichosis lanuginosa Acquired pseudoxanthoma 228247 elasticum Acquired von Willebrand 99147 syndrome Acral dystrophic epidermolysis 158673 bullosa 2221 60 Cases 20 Cases 300 Cases 10 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 4 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 263534 Acral peeling skin syndrome 40 Cases Acral self-healing collodion baby 2 Cases 2008 Acro-cardio-facial syndrome 9 Cases 1784 Acro-fronto-facio-nasal dysostosis 5 Cases 281127 85203 Acro-pectoral syndrome 22 Cases 956 Acro-pectoro-renal dysplasia 12 Cases 958 Acro-renal-mandibular syndrome 7 Cases 959 Acro-renal-ocular syndrome 36 Acrocallosal syndrome 20 Families 34 Cases 221054 Acrocephalopolydactyly 8 Cases 949 Acrocraniofacial dysostosis 2 Cases 950 Acrodysostosis 80 Cases Acrodysostosis with multiple hormone resistance Acrofacial dysostosis, Catania 1786 type Acrofacial dysostosis, Kennedy64542 Teebi type Acrofacial dysostosis, Rodríguez 1788 type Acromegaloid facial 965 appearance syndrome 280651 40 Cases 5.5 P 963 Acromegaly 0.35 I 39 Acromelanosis 968 40 0.54 P * 79276 Acute intermittent porphyria 0.013 I * 79126 Acute interstitial pneumonia 3.8 P * 90062 Acute liver failure 20.0 P * 178320 Acute lung injury 25.0 I * 519 Acute myeloid leukemia 2.5 I 10 Cases 90064 Acute peripheral arterial occlusion 16.0 P * 20 Cases 520 Acute promyelocytic leukemia 0.11 I * Acromicric dysplasia 60 Cases 955 Acroosteolysis dominant type 80 Cases Acute sensorineural hearing loss by acute acoustic trauma or 90059 sudden deafness or surgery induced acoustic trauma 37.0 P * 1.6 I Acute zonal occult outer 284454 retinopathy Acyl-CoA dehydrogenase 9 99901 deficiency 150 Cases 16 Cases 100008 ACys amyloidosis 9 Families 55881 Adamantinoma 0.01 I * 3 Cases 85138 Addison disease 12.5 P * Adducted thumbs2952 arthrogryposis syndrome, Christian type 957 Acropectorovertebral dysplasia 30 Cases 971 Acrorenal syndrome 20 Cases 99976 Adenocarcinoma of esophagus 0.55 I 17 Cases 18 Cases 12 Cases 5 Cases 0.6 I * 3.1 P * 0.1 I * 969 Acute annular outer retinopathy Acute bilateral depigmentation 69736 of the iris Acute disseminated 83597 encephalomyelitis 6 Cases Acute monoblastic leukemia 50 Cases 284460 13 Cases 79276 Acute intermittent porphyria 139417 Acute transverse myelitis 397596 Activated PIK3-delta syndrome 0.3 I 2.75 I * 10 Cases Acroosteolysis-keloid-like 363665 lesions-premature aging syndrome 283 Cases Acute lymphoblastic leukemia 10 Cases Acromesomelic dysplasia, Hunter-Thomson type Acromesomelic dysplasia, Maroteaux type ACTH-dependent Cushing 99892 syndrome Action myoclonus-renal failure 163696 syndrome Acute encephalopathy with 363549 biphasic seizures and late reduced diffusion Acute generalized 293173 exanthematous pustulosis Acute infantile liver failure due 217371 to synthesis defect of mtDNAencoded proteins Acute infantile liver failure370088 multisystemic involvement syndrome Acute inflammatory 98916 demyelinating polyradiculoneuropathy Number of Estimated published prevalence/incidence cases or (/100,000) families 514 2 Cases Acromegaly Disease or Group of diseases 513 6 Cases 963 ORPHA Number 3 Families 0.7 I Adenosine monophosphate 45 deaminase deficiency Adenylosuccinate lyase 46 deficiency ADNP-related multiple congenital anomalies404448 intellectual disability-autism spectrum disorder 100 Cases 56 Cases 10 Cases 1501 Adrenocortical carcinoma 0.75 P * 1501 Adrenocortical carcinoma 0.03 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 5 ORPHA Number Disease or Group of diseases 2666 Adult familial nephronophthisis - spastic quadriparesia 874 Adult heart tumor Number of Estimated published prevalence/incidence cases or (/100,000) families 2 Cases 140.9 I * 178487 Adult intestinal botulism 19 Cases Adult polyglucosan body disease 50 Cases ADULT syndrome 206583 978 99027 329478 199351 209335 Adult-onset autosomal dominant leukodystrophy Adult-onset distal myopathy due to VCP mutation Adult-onset dystoniaparkinsonism Adult-onset proximal spinal muscular atrophy, autosomal dominant 183669 Agammaglobulinemia Agenesis of the corpus callosum-intellectual disabilitycoloboma-micrognathia syndrome Aggressive systemic 98850 mastocytosis AHDC1-related intellectual disability-obstructive sleep 412069 apnea-mild dysmorphism syndrome Alagille syndrome Albers-Schönberg osteopetrosis Albinism-deafness syndrome ALDH18A1-related De Barsy 35664 syndrome Aldosterone-producing 369929 adenoma with seizures and neurological abnormalities 324422 ALG13-CDG 1 Case 59 Allan-Herndon-Dudley syndrome 700 Alopecia totalis 10.5 P * 701 Alopecia universalis 25.0 P * 89 Cases Alopecia-contractures1005 dwarfism-intellectual disability syndrome Alopecia-epilepsy-pyorrhea1008 intellectual disability syndrome Alopecia-intellectual disability1014 hypergonadotropic hypogonadism syndrome 5 Cases 12 Cases 2 Cases 726 Alpers-Huttenlocher syndrome 0.07 P * 726 Alpers-Huttenlocher syndrome 0.7 BP * 60 Alpha-1-antitrypsin deficiency 20.0 P * 100025 Alpha-heavy chain disease 61 4 Cases 1 Case 120 Cases 20.0 P * 1 Family 11.0 P * 8 Cases 0.4 BP * 5 Families Alar cartilages hypoplasia2007 coloboma-telecanthus syndrome 53 8 Cases 20 Families 0.33 P * 178333 Åland Islands eye disease 998 79325 ALG8-CDG 11 Cases 2 Cases Alacrimia-choreoathetosis-liver 404454 dysfunction syndrome 52 58 Cases 79324 ALG12-CDG 475 Cases AKT2-related familial partial 79085 lipodystrophy 85443 AL amyloidosis 79320 ALG6-CDG 2 Cases 3 Cases Aicardi-Goutières syndrome 90081 AIDS wasting syndrome 10 Cases 14 Cases 0.13 P * 250977 AICA-ribosiduria 51 79321 ALG3-CDG 3 Cases 0.1 P * 52055 Number of Estimated published prevalence/incidence cases or (/100,000) families 79328 ALG9-CDG 14 Cases 85448 AGel amyloidosis Disease or Group of diseases 280071 ALG11-CDG 9 Cases Agammaglobulinemia83617 microcephaly-craniosynostosissevere dermatitis syndrome ORPHA Number 2 Cases 1.0 P Alpha-N3137 acetylgalactosaminidase deficiency Alpha-N79279 acetylgalactosaminidase deficiency type 1 Alpha-N79280 acetylgalactosaminidase deficiency type 2 Alpha-N79281 acetylgalactosaminidase deficiency type 3 Alpha-thalassemia-intellectual 98791 disability syndrome linked to chromosome 16 Alpha-thalassemia231401 myelodysplastic syndrome Alpha-thalassemia-X-linked 847 intellectual disability syndrome 63 1 Family 32 Cases 79327 ALG1-CDG 15 Cases 79326 ALG2-CDG 1 Case Alport syndrome 20 Cases 10 Cases 10 Cases 10 Cases 20 Cases 80 Cases 200 Cases 2.0 P * Alport syndrome-intellectual 86818 disability-midface hypoplasiaelliptocytosis syndrome 64 2 Cases Alpha-mannosidosis 400 Cases 0.1 P * 2 Families 950 Cases Alström syndrome Alternating hemiplegia of 2131 childhood 0.9 BP * 284 0.16 I * Alveolar echinococcosis 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 6 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 93561 ALys amyloidosis 1021 7 Families Amaurosis-hypertrichosis syndrome 314422 Ameloblastic carcinoma Amelogenesis imperfectagingival hyperplasia syndrome Amelogenesis imperfecta1031 nephrocalcinosis syndrome Aminopterin/methotrexate 1908 embryofetopathy 171836 ORPHA Number Disease or Group of diseases 254411 Annular atrophic lichen planus 10 Cases Annular epidermolytic ichthyosis 7 Families 2 Cases 281139 40 Cases 675 Annular pancreas 8 Cases 1094 Anonychia - microcephaly 11 Cases 1034 Amniotic bands 803 Amyotrophic lateral sclerosis 3.85 P 803 Amyotrophic lateral sclerosis 1.35 I 1104 2.5 BP * Amyotrophic lateral sclerosis 357043 type 4 228113 Anal fistula 98841 Anaplastic large cell lymphoma 70 Cases 2.0 P * Antecubital pterygium 2987 syndrome Anaplastic thyroid carcinoma 142 Anaplastic thyroid carcinoma 0.17 I * 157954 ANE syndrome Aneurysm-osteoarthritis syndrome Angel-shaped phalango63442 epiphyseal dysplasia 284984 45 Cases 20 Cases 72 Angelman syndrome 7.5 P 72 Angelman syndrome 1.1 BP * 251671 Angiocentric glioma 2346 Angioosteohypertrophic syndrome 90079 Anthracycline extravasations 5 Cases 52 Cases 0.8 BP * 370039 Angora hair nevus 2 Cases Anhidrotic ectodermal dysplasia-immunodeficiency69088 osteopetrosis-lymphedema syndrome 2 Cases 1457 Aorta coarctation 1110 Aortic arch anomaly - peculiar facies - intellectual disability 2299 Aortic arch interruption 3400 Aorto-ventricular tunnel Aplasia cutis congenita 3 Cases 1116 Aplasia cutis congenita intestinal lymphangiectasia 2 Cases 99981 Apnea of prematurity 1070 Anisakiasis Ankyloblepharon filiforme imperforate anus Ankylosing vertebral 2206 hyperostosis with tylosis 1074 0.32 I 425 8 Cases 35.6 BP * 4 Cases 0.3 BP * 130 Cases 3 Cases 5 Cases 2 Cases 4 Cases 10.0 BP 3 Cases 8.5 P * 30 Families Apolipoprotein A-I deficiency Arachnodactyly - abnormal 1129 ossification - intellectual disability Arachnodactyly - intellectual 1130 disability - dysmorphism 1133 3 Families 34 Cases Aphalangy - hemivertebrae 1112 urogenital-intestinal dysgenesis Aphalangy - syndactyly 1113 microcephaly Aphonia - deafness - retinal 324540 dystrophy - bifid halluces intellectual disability 1114 2 Cases 0.3 P * Antley-Bixler syndrome 1.3 I * 1068 11 Cases 3.5 P Aniridia 30 Cases 0.028 BP * Antisynthetase syndrome 77 1065 30 Cases 83 Aplasia cutis - myopia 3 Cases 4 Cases 81 1117 1069 8.3 BP * 0.08 I * 1.75 P 1064 3 Cases 375 Aniridia 1067 3 Cases Anti-glomerular basement membrane disease 77 Aniridia - ptosis - intellectual disability - familial obesity Aniridia - renal agenesis psychomotor retardation Aniridia-absent patella syndrome Aniridia-cerebellar ataxiaintellectual disability syndrome Aniridia-intellectual disability syndrome 14 Cases Anophthalmia/microphthalmia 77298 - esophageal atresia 93976 Anotia 0.1 P * 5 Cases Anophthalmia plus syndrome 23.0 P * 142 1.8 BP * 90390 Anonychia - onychodystrophy Anonychia with flexural 69125 pigmentation Anophthalmia - megalocornea 1101 cardiopathy - skeletal anomalies Anophthalmia 98555 microphthalmia 17 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families 5 Cases 3 Cases 3 Cases AREDYLD syndrome 23 Argininosuccinic aciduria 0.5 P * 23 Argininosuccinic aciduria 0.46 BP 91 Aromatase deficiency 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 7 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families ORPHA Number 35708 Aromatic L-amino acid decarboxylase deficiency 100 Cases 1456 1134 Arrhinia 20 Cases 314721 1135 247 1682 3342 1485 2697 Arrhinia - choanal atresia microphthalmia Arrhythmogenic right ventricular cardiomyopathy 4 Cases 20.0 P Arterial dissection - lentiginosis 4 Cases Arterial tortuosity syndrome 80 Cases Arthrogryposis hyperkeratosis, lethal form Arthrogryposis - renal dysfunction - cholestasis Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita - whistling face Arthrogryposis-like hand anomaly - sensorineural deafness 2 Cases 100 Cases Disease or Group of diseases Atypical coarctation of aorta Atypical dentin dysplasia due to SMOC2 deficiency Atypical glycine 289863 encephalopathy Atypical hemolytic-uremic 2134 syndrome Atypical hemolytic-uremic 357008 syndrome with DGKE deficiency Atypical hypotonia - cystinuria 238523 syndrome Number of Estimated published prevalence/incidence cases or (/100,000) families 0.17 BP * 4 Cases 20 Cases 1.0 P * 13 Cases 2 Cases 391411 Atypical juvenile parkinsonism 6 Families 86797 Atypical lichen myxedematosus 20 Cases 314466 Atypical Meigs syndrome 9 Cases 10 Cases Auricular abnormalities - cleft 77300 lip with or without cleft palate ocular abnormalities 2 Cases 1 Family 137888 Auriculocondylar syndrome 50 Cases 2 Cases Ascher syndrome 50 Cases Auriculoocular anomalies - cleft 71270 lip 85175 Astley-Kendall dysplasia 5 Cases 1037 1150 1144 1253 251679 Astroblastoma 5.7 BP * 0.02 I * 94 Astrocytoma 2.5 P * 94 Astrocytoma 8.0 I * 96 Ataxia with vitamin E deficiency Ataxia-deafness-intellectual disability syndrome Ataxia-intellectual disability370022 oculomotor apraxia-cerebellar cysts syndrome 8 Cases 7 Cases 100 Ataxia-telangiectasia 0.49 P * 1190 Atelosteogenesis type I 12 Cases 56304 Atelosteogenesis type II 25 Cases 56305 Atelosteogenesis type III 25 Cases Athabaskan brainstem 69739 dysgenesis syndrome Atherosclerosis - deafness 1192 diabetes - epilepsy nephropathy 95713 Athyreosis 1193 163934 Atopic keratoconjunctivitis 1201 10 Cases Atresia of small intestine Atrial septal defect 1479 atrioventricular conduction defects Atrial tachyarrhythmia with 844 short PR interval Attenuated Chédiak-Higashi 352723 syndrome 4 Cases Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder370943 epilepsy-arthrogryposis syndrome Autism-epilepsy syndrome due to branched chain ketoacid 308410 dehydrogenase kinase deficiency Autoerythrocyte sensitization 324636 syndrome Autoimmune encephalopathy 420789 with parasomnia and obstructive sleep apnea Autoimmune enteropathy and 391487 endocrinopathy-susceptibility to chronic infections syndrome 98375 Autoimmune hemolytic anemia 2 Cases Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autoimmune interstitial lung 444092 disease-arthritis syndrome Autoimmune 3261 lymphoproliferative syndrome Autoimmune 436159 lymphoproliferative syndrome due to CTLA4 haploinsuffiency Autoimmune 275517 lymphoproliferative syndrome with recurrent viral infections Autoimmune necrotizing 206569 myopathy 444463 3.5 P * 14 Cases Atkin-Flaitz syndrome 2 Families Auriculoosteodysplasia 352490 0.33 P * 1188 114 137911 Autism - facial port-wine stain 15.0 P * 16.0 BP * 11 Cases 12 Cases 100 Cases 7 Cases 8 Cases 5 Families 170 Cases 10 Cases 5 Cases 2.02 I * 6 Cases 5 Families 500 Cases 17 Cases 1 Family 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 8 ORPHA Number 747 747 324530 329173 33110 314399 99 314404 435819 435387 401964 99940 99941 99944 99945 228179 228174 329258 397735 363454 Disease or Group of diseases Autoimmune pulmonary alveolar proteinosis Autoimmune pulmonary alveolar proteinosis Autoinflammation-PLCG2associated antibody deficiencyimmune dysregulation Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autosomal agammaglobulinemia Autosomal dominant aplasia and myelodysplasia Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant CharcotMarie-Tooth disease type 2 due to TFG mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to VCP mutation Autosomal dominant CharcotMarie-Tooth disease type 2 with giant axons Autosomal dominant CharcotMarie-Tooth disease type 2F 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 childhood-onset proximal spinal muscular atrophy with contractures 90348 Autosomal dominant cutis laxa Autosomal dominant deafnessonychodystrophy syndrome Autosomal dominant familial 73229 hematuria - retinal arteriolar tortuosity - contractures Autosomal dominant focal 329466 dystonia, DYT25 Autosomal dominant focal nonepidermolytic palmoplantar 402003 keratoderma with plantar blistering 79499 Number of Estimated published prevalence/incidence cases or (/100,000) families 0.5 P ORPHA Number Disease or Group of diseases Autosomal dominant hyper-IgE syndrome Autosomal dominant 1810 hypohidrotic ectodermal dysplasia Autosomal dominant 89937 hypophosphatemic rickets Autosomal dominant 93114 intermediate Charcot-MarieTooth disease type E Autosomal dominant 352670 intermediate Charcot-MarieTooth disease type F Autosomal dominant intermediate Charcot-Marie324585 Tooth disease with neuropathic pain Autosomal dominant Larsen 503 syndrome Autosomal dominant limb266 girdle muscular dystrophy type 1A Autosomal dominant limb34516 girdle muscular dystrophy type 1D Autosomal dominant limb34517 girdle muscular dystrophy type 1E Autosomal dominant limb55595 girdle muscular dystrophy type 1F Autosomal dominant limb55596 girdle muscular dystrophy type 1G Autosomal dominant limb238755 girdle muscular dystrophy type 1H Autosomal dominant 140957 macrothrombocytopenia Autosomal dominant medullary 34149 cystic kidney disease with or without hyperuricemia Autosomal dominant mendelian susceptibility to 319581 mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to 319589 mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant multiple 65743 pterygium syndrome Autosomal dominant myopiamidfacial retrusion440354 sensorineural hearing lossrhizomelic dysplasia syndrome Autosomal dominant 329211 neovascular inflammatory vitreoretinopathy 2314 0.04 I 2 Cases 3 Cases 100 Cases 6 Cases 2.7 P 24 Cases 2 Cases 7 Cases 3 Families 5 Families 1 Family 3 Families 1 Family 20 Cases 28 Cases 8 Cases 2 Cases 25 Cases 50 Cases 22 Cases 8 Cases 28 Cases 21 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families 0.1 I * 40 Cases 100 Cases 21 Cases 8 Cases 9 Cases 0.4 BP * 2 Families 5 Families 5 Families 1 Family 2 Families 11 Cases 100 Cases 0.11 P * 70 Cases 2 Cases 4 Cases 1 Family 99 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 9 ORPHA Number 98784 98672 67036 1215 2783 1010 88924 1300 34528 314889 209867 3107 100988 100989 100990 100991 100993 100994 100998 100999 101009 171612 171617 444099 228169 3086 79278 Disease or Group of diseases Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant optic atrophy Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy plus syndrome Autosomal dominant osteopetrosis type 1 Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant popliteal pterygium syndrome Autosomal dominant primary hypomagnesemia with hypocalciuria Autosomal dominant proximal renal tubular acidosis Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant Robinow syndrome Autosomal dominant spastic paraplegia type 6 Autosomal dominant spastic paraplegia type 8 Autosomal dominant spastic paraplegia type 9 Autosomal dominant spastic paraplegia type 10 Autosomal dominant spastic paraplegia type 12 Autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 19 Autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 38 Autosomal dominant spastic paraplegia type 73 Autosomal dominant striatal neurodegeneration Autosomal dominant vitreoretinochoroidopathy Autosomal erythropoietic protoporphyria Number of Estimated published prevalence/incidence cases or (/100,000) families 100 Families 3.3 P 3 Families 0.4 P * 33 Cases 10 Cases 30 Cases 0.3 P 18 Cases 1 Family 38 Cases 100 Cases 10 Families 10 Families 7 Families 10 Families 10 Families 10 Families 20 Families 1 Family 1 Family 13 Cases 1 Family 1 Family 7 Cases 3 Cases 0.92 P * ORPHA Number Disease or Group of diseases 79278 Autosomal erythropoietic protoporphyria 1027 Autosomal recessive amelia 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 324442 neuropathy with neuromyotonia Autosomal recessive 139455 bestrophinopathy Autosomal recessive cerebellar 1172 ataxia Autosomal recessive cerebellar 95433 ataxia - blindness - deafness Autosomal recessive cerebellar 95434 ataxia - saccadic intrusion Autosomal recessive cerebellar 412057 ataxia due to STUB1 deficiency Autosomal recessive cerebellar 352641 ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia-epilepsy-intellectual 404499 disability syndrome due to KIAA0226 deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual 404493 disability syndrome due to TUD deficiency Autosomal recessive cerebral 363969 atrophy Autosomal recessive congenital 363432 cerebellar ataxia due to GRID2 deficiency Autosomal recessive congenital 324262 cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital 281097 ichthyosis Autosomal recessive cutis laxa 90349 type 1 Autosomal recessive cutis laxa 90350 type 2 Autosomal recessive dopa101150 responsive dystonia Autosomal recessive early238569 onset inflammatory bowel disease Autosomal recessive facio1974 digito-genital syndrome Autosomal recessive 329329 frontotemporal pachygyria Autosomal recessive infantile 300547 hypercalcemia Number of Estimated published prevalence/incidence cases or (/100,000) families 0.012 I * 3 Cases 2 Cases 31 Cases 57 Cases 33 Families 20 Cases 3.3 P 3 Families 1 Family 10 Families 10 Cases 2 Cases 3 Cases 4 Cases 7 Cases 10 Cases 0.5 P * 60 Cases 40 Cases 50 Cases 80 Cases 16 Cases 7 Cases 12 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 10 ORPHA Number Disease or Group of diseases Autosomal recessive 217055 intermediate Charcot-MarieTooth disease type A Autosomal recessive 254334 intermediate Charcot-MarieTooth disease type B Autosomal recessive 369867 intermediate Charcot-MarieTooth disease type C Autosomal recessive 435998 intermediate Charcot-MarieTooth disease type D Autosomal recessive isolated 98676 optic atrophy Autosomal recessive leukoencephalopathy with 314572 ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive limb-girdle 267 muscular dystrophy type 2A Autosomal recessive limb-girdle 353 muscular dystrophy type 2C Autosomal recessive limb-girdle 119 muscular dystrophy type 2E Autosomal recessive limb-girdle 219 muscular dystrophy type 2F Autosomal recessive limb-girdle 34514 muscular dystrophy type 2G Autosomal recessive limb-girdle 34515 muscular dystrophy type 2I Autosomal recessive limb-girdle 206549 muscular dystrophy type 2L Autosomal recessive limb-girdle 206554 muscular dystrophy type 2M Autosomal recessive limb-girdle 280333 muscular dystrophy type 2P Autosomal recessive limb-girdle 254361 muscular dystrophy type 2Q Autosomal recessive limb-girdle 363543 muscular dystrophy type 2R Autosomal recessive limb-girdle 369840 muscular dystrophy type 2S Autosomal recessive limb-girdle 363623 muscular dystrophy type 2T Autosomal recessive limb-girdle 352479 muscular dystrophy type 2U Autosomal recessive lower 206580 motor neuron disease with childhood onset Autosomal recessive 238505 lymphoproliferative disease Autosomal recessive malignant 667 osteopetrosis Autosomal recessive mendelian susceptibility to mycobacterial 319569 diseases due to partial IFNgammaR1 deficiency Number of Estimated published prevalence/incidence cases or (/100,000) families 8 Families 1 Case 3 Cases 3 Cases 5 Cases 3 Cases 1.0 P * 0.2 P * 0.1 P * 0.3 P * 14 Cases 1.0 P * 14 Cases 3 Cases 8 Cases 6 Cases 2 Cases 3 Cases 2 Cases 8 Cases 5 Cases 2 Cases 0.75 BP * 14 Cases ORPHA Number Disease or Group of diseases Autosomal recessive mendelian susceptibility to mycobacterial 319574 diseases due to partial IFNgammaR2 deficiency Autosomal recessive nail 280654 dysplasia Autosomal recessive 93329 omodysplasia Autosomal recessive 1366 palmoplantar keratoderma and congenital alopecia Autosomal recessive polycystic 731 kidney disease Autosomal recessive primary immunodeficiency with 437552 defective spontaneous natural killer cell cytotoxicity Autosomal recessive Robinow 1507 syndrome Autosomal recessive severe 420702 congenital neutropenia due to CSF3R deficiency Autosomal recessive severe 420699 congenital neutropenia due to CXCR2 deficiency Autosomal recessive severe 331176 congenital neutropenia due to G6PC3 deficiency Autosomal recessive severe 423384 congenital neutropenia due to JAGN1 deficiency Autosomal recessive spastic 254343 ataxia - optic atrophy dysarthria Autosomal recessive spastic 314603 ataxia with leukoencephalopathy Autosomal recessive spastic 100995 paraplegia type 14 Autosomal recessive spastic 100996 paraplegia type 15 Autosomal recessive spastic 209951 paraplegia type 18 Autosomal recessive spastic 101003 paraplegia type 23 Autosomal recessive spastic 101004 paraplegia type 24 Autosomal recessive spastic 101005 paraplegia type 25 Autosomal recessive spastic 101006 paraplegia type 26 Autosomal recessive spastic 101007 paraplegia type 27 Autosomal recessive spastic 101008 paraplegia type 28 Autosomal recessive spastic 101010 paraplegia type 30 Autosomal recessive spastic 171622 paraplegia type 32 Number of Estimated published prevalence/incidence cases or (/100,000) families 5 Cases 4 Cases 23 Cases 8 Cases 1.17 P * 3 Cases 100 Cases 4 Cases 2 Cases 57 Cases 14 Cases 6 Cases 54 Cases 1 Family 10 Families 9 Cases 1 Family 1 Family 1 Family 10 Families 2 Families 6 Cases 3 Families 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 11 ORPHA Number 171629 139480 306511 431329 397946 401795 401800 401780 401785 401805 401810 401815 401820 401825 401830 401835 401840 401979 250984 300345 280365 401849 782 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 48 Autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 58 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 68 Autosomal recessive spastic paraplegia type 69 Autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 71 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Autosomal recessive Stickler syndrome Autosomal recessive systemic lupus erythematosus Autosomal semi-dominant severe lipodystrophic laminopathy Autosomal spastic paraplegia type 72 Axenfeld-Rieger syndrome 1 Family 2 Families 2 Cases 2 Cases 2 Cases 3 Cases 1 Case 36234 Bacterial toxic-shock syndrome Bamforth-Lazarus syndrome 8 Cases 1227 Bangstad syndrome 2 Cases 1228 Banki syndrome 1 Family 2995 Baraitser-Winter syndrome 30 Cases 1231 Barber-Say syndrome 11 Cases 110 Bardet-Biedl syndrome 0.7 P * 110 Bardet-Biedl syndrome 0.2 BP * 0.22 P * 111 Barth syndrome 1234 Bartsocas-Papas syndrome 112 Bartter syndrome 24 Cases 0.1 I * 100976 Bathing suit ichthyosis 20 Cases 7 Cases 166113 Bazex syndrome 145 Cases 4 Cases 2 Cases 2 Cases 1 Case 2 Cases 4 Cases 1 Case 4 Cases 4 Cases 7 Families 7 Cases 14 Cases 98895 Becker muscular dystrophy 1.53 P 98895 Becker muscular dystrophy 2.2 BP * 116 Beckwith-Wiedemann syndrome 1237 Beemer-Ertbruggen syndrome 1241 Bencze syndrome 252164 Benign schwannoma 274 Bernard-Soulier syndrome 4 Families 118 Beta-mannosidosis 12 Cases 1225 30 Cases 27 Cases 4 Cases 100 Families 10 Families 10 Cases 36 Cases 50 Cases 4 Cases 6.0 P * 0.25 P * 100 Cases 0.14 BP * Beta-propeller protein329284 associated neurodegeneration 848 3.0 P 2 Cases 2 Families Benign concentric annular macular dystrophy Benign exophthalmos 71269 syndrome Benign familial neonatal 1949 epilepsy Benign familial neonatal140927 infantile seizures Benign familial nocturnal 209973 alternating hemiplegia of childhood Benign infantile focal epilepsy 166308 with midline spikes and wave during sleep Benign paroxysmal torticollis of 71518 infancy Benign Samaritan congenital 324581 myopathy 3 Cases 27.0 P * 2.3 BP * 251287 Berardinelli-Seip congenital lipodystrophy 2 Cases 143 Cases Bazex-Dupré-Christol syndrome 528 0.5 P * 93395 Ballard syndrome Baller-Gerold syndrome Number of Estimated published prevalence/incidence cases or (/100,000) families 1226 113 79332 B4GALT1-CDG B-cell chronic lymphocytic leukemia Disease or Group of diseases 4 Cases 2 Cases Axial spondylometaphyseal 168549 dysplasia AXIN2-related attenuated 401911 familial adenomatous polyposis 67038 ORPHA Number Beta-thalassemia Beta-ureidopropionase 65287 deficiency Bilateral microtia - deafness 140963 cleft palate 5 Cases 1.0 I 5 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 12 ORPHA Number 1980 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Bilateral striopallidodentate calcinosis 200 Cases ORPHA Number Disease or Group of diseases 1262 Böök syndrome 26 Cases 1263 Boomerang dysplasia 10 Cases 127 Borjeson-Forssman-Lehmann syndrome 50 Cases 30391 Biliary atresia 18.5 BP 79241 Biotinidase deficiency 1.6 P * 79241 Biotinidase deficiency 1.6 BP 69737 Bosley-Salih-Alorainy syndrome 0.5 P * 1267 Botulism 1270 Bowen-Conradi syndrome 122 Birt-Hogg-Dubé syndrome 123 Björnstad syndrome 124 Blackfan-Diamond anemia 93930 Bladder exstrophy 73271 420566 1997 1252 126 2057 293642 329255 2728 3047 1259 171844 50945 Bleeding diathesis due to a collagen receptor defect Bleeding disorder due to CalDAG-GEFI deficiency Blepharo-cheilo-odontic syndrome Blepharonasofacial malformation syndrome Blepharophimosis - epicanthus inversus - ptosis Blepharophimosis - ptosis esotropia - syndactyly - short stature Blepharophimosis-intellectual disability syndrome Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharoptosis - myopia ectopia lentis Blindness-scoliosisarachnodactyly syndrome Blomstrand lethal chondrodysplasia 33 Cases 3.05 BP 2 Families 3 Families 93382 Brachydactyly type A6 7 Cases 93397 Brachydactyly type A7 1 Family 8 Cases Brachydactyly-arterial 1276 hypertension syndrome Brachydactyly-syndactyly, Zhao 93409 type Brachymorphism 1292 onychodysplasia dysphalangism 10 Families 2 Families 9 Cases 30 Cases Brachytelephalangy 1295 dysmorphism - Kallmann syndrome 2 Cases 20 Cases 52047 Braddock syndrome 2 Cases 75374 Bradyopsia 5 Cases 178506 Brain calcification, Rajab type 8 Cases 400 Cases 200 Cases Blue rubber bleb nevus 1 Family 1293 13 Cases 1.0 BP 1246 4 Cases 4 Cases Blue cone monochromatism 4 Cases Brachydactyly - long thumb 93389 Brachydactyly type A5 3 Cases 16 4 Families 50 Cases 58 Cases 1.0 P 60 Cases 3 Cases 6 Cases Blue cone monochromatism 0.05 I * Brachydactyly - nystagmus cerebellar ataxia Brachydactyly - preaxial hallux 1278 varus 2.0 P 16 1059 2946 20 Cases Bloom syndrome 9 Cases Brachydactyly - elbow wrist 1275 dysplasia 0.67 BP * 125 Number of Estimated published prevalence/incidence cases or (/100,000) families 100 Cases Brachyolmia Brain demyelination due to 168598 methionine adenosyltransferase deficiency Brain dopamine-serotonin 352649 vesicular transport disease Brain malformation - congenital 75389 heart disease - postaxial polydactyly 2 Cases 8 Cases 2 Cases 209905 Brain-lung-thyroid syndrome 20 Cases 217266 BNAR syndrome 9 Families Body skin hyperlaxity due to 91135 vitamin K-dependent coagulation factor deficiency 10 Cases 97297 Bohring-Opitz syndrome 30 Cases Branchio-skeleto-genital syndrome Branchiogenic deafness 50815 syndrome 7 Cases 85284 BRESEK syndrome 5 Cases 90354 Brittle cornea syndrome 65 Cases 1842 Bone dysplasia, lethal Holmgren type 223727 Bone sarcoma 9.29 P * 223727 Bone sarcoma 0.8 I * 1261 Bonnemann-Meinecke-Reich syndrome 1297 1299 70589 Bronchopulmonary dysplasia 4 Cases 50 Cases Branchio-oculo-facial syndrome 3 Cases 5 Cases 13.0 P * 79493 Brooke-Spiegler syndrome 100 Cases 2771 40 Cases Bruck syndrome 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 13 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 130 Brugada syndrome 20.0 P * 131 Budd-Chiari syndrome 1.5 P * 36258 Buerger disease 16.0 P Bullous diffuse cutaneous 280785 mastocytosis Bullous dystrophy, macular 1867 type Bullous systemic lupus 46489 erythematosus 40 Cases 2 Families 70 Cases 543 Burkitt lymphoma 0.17 I * 1308 C syndrome 0.11 P * 135 CACH syndrome 136 CADASIL 3.0 P * 1310 85192 91130 3238 100 Cases Caffey disease 280062 Calciphylaxis 97292 Cardiogenic shock 90022 4 Cases 5.0 P * Calvarial doughnut lesions bone fragility 20 Cases Disease or Group of diseases Cardiac anomalies369891 developmental delay-facial dysmorphism syndrome Cardiocranial syndrome, 2872 Pfeiffer type Cardiodysrhythmic potassium37553 sensitive periodic paralysis Cardiofaciocutaneous 1340 syndrome 1345 148 Cases 369942 CADDS ORPHA Number 20 Families 1319 Camptobrachydactyly 17 Cases 1328 Camurati-Engelmann disease 141 Canavan disease 8 Cases 2 Cases 156 1361 30 Families 300 Cases 1.0 BP 3 Cases 150 Cases Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyl transferase 228302 II deficiency, myopathic form Carnitine palmitoyl transferase 228308 II deficiency, neonatal form Carnitine palmitoyl transferase 228305 II deficiency, severe infantile form Carnitine palmitoyltransferase 157 II deficiency Carnitine-acylcarnitine 159 translocase deficiency Camptodactyly syndrome, 1327 Guadalajara type 1 Camptodactyly syndrome, 1326 Guadalajara type 2 Camptodactyly-arthropathy2848 coxa-vara-pericarditis syndrome 2 Cases 160 Cases Campomelic dysplasia Camptodactyly - taurinuria 2 Cases Carney complex 140 1325 9 Cases 1359 97286 Carney-Stratakis syndrome 30 Cases 40.0 P * 139411 Carney triad 8 Cases 3 Cases 300 Cases 20 Cases Campomelia, Cumming type Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia Camptodactyly - tall stature 85164 scoliosis - hearing loss 0.1 I * Carey-Fineman-Ziter syndrome 1318 1321 10 Cases 1358 5 Cases 1 Family 4 Cases Cardiomyopathy - cataract - hip spine disease Cardiomyopathy - hypotonia lactic acidosis Cardiomyopathy - renal anomalies Cardiospondylocarpofacial syndrome 83472 CAMOS syndrome 0.33 BP * Number of Estimated published prevalence/incidence cases or (/100,000) families Carnosinemia 53035 Caroli disease 50 Cases 300 Cases 18 Cases 30 Cases 300 Cases 60 Cases 0.2 BP 0.1 I 65759 Carpenter syndrome 70 Cases 93973 Carpenter-Waziri syndrome 6 Cases 325004 CANDLE syndrome 10 Cases 175 Cartilage-hair hypoplasia 4.34 BP * 171881 Cap myopathy 10 Cases 195 Cat-eye syndrome 1.35 BP * 160148 Cap polyposis 67 Cases 50839 Cat-scratch disease 261 Cases 1368 137667 147 Capillary malformation arteriovenous malformation Carbamoyl-phosphate synthetase 1 deficiency 9.8 P 70482 Carcinoma of esophagus 7.0 I 56044 Carcinoma of gallbladder and extrahepatic biliary tract 137628 Cardiac anomalies - heterotaxy 12.0 I 6.6 P * 2 Cases Cataract - deafness hypogonadism Cataract - intellectual disability 1387 - hypogonadism Cataract - nephropathy 1380 encephalopathy 20 Cases 162 3 Families 1383 0.31 P 70482 Carcinoma of esophagus Cataract - ataxia - deafness Cataract-glaucoma 3 Cases 2 Cases 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 14 ORPHA Number Disease or Group of diseases Cataract-growth hormone deficiency-sensory neuropathy436174 sensorineural hearing lossskeletal dysplasia syndrome Cataract-microcornea 1377 syndrome Catecholaminergic polymorphic 3286 ventricular tachycardia 1388 Number of Estimated published prevalence/incidence cases or (/100,000) families 3 Cases 8 Families 10.0 P * 33 Cases 66631 CEDNIK syndrome 7 Cases 1459 Celiac disease, epilepsy and cerebral calcification syndrome 170 Cases 3258 Cenani-Lenz syndrome 30 Cases 2431 Central bilateral macrogyria 4 Cases 98972 Central cloudy dystrophy of Francois 24 Cases 4.0 P * Central nervous system 3240 calcification - deafness - tubular acidosis - anemia 2 Cases 73256 Central neurocytoma 411527 Central retinal vein occlusion 89841 1171 444072 46724 2081 Centripetalis recessive dystrophic epidermolysis bullosa Cerebellar ataxia - areflexia pes cavus - optic atrophy sensorineural hearing loss Cerebellar-facial-dental syndrome Cerebral arteriovenous malformation 500 Cases 28.0 P * 10 Cases 10 Cases 3 Families 6.0 P * 10 Cases Cerebral gigantism - jaw cysts Cerebral sinovenous thrombosis Cerebro-costo-mandibular 1393 syndrome Cerebro-facio-articular 314679 syndrome Cerebro-facio-thoracic 1394 dysplasia 329217 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease 101102 type 2H Charcot-Marie-Tooth disease 300319 type 2P Charcot-Marie-Tooth disease 397968 type 2R Charcot-Marie-Tooth disease 443950 type 2T Charcot-Marie-Tooth disease 99955 type 4B1 Charcot-Marie-Tooth disease 363981 type 4B3 Charcot-Marie-Tooth disease 99954 type 4H Charcot-Marie-Tooth disease 139515 type 4J 101101 Catel-Manzke syndrome 178029 Central diabetes insipidus ORPHA Number 65753 Charcot-Marie-Tooth disease type 1 17.5 P 10 Cases 5 Cases 6.5 BP 167 Chédiak-Higashi syndrome 500 Cases 1221 Cheilitis glandularis 100 Cases 184 Cherubism 300 Cases 139 CHILD syndrome 60 Cases 209908 Childhood apraxia of speech Childhood disintegrative 168782 disorder Childhood encephalopathy due 293955 to thiamine pyrophosphokinase deficiency Childhood-onset autosomal 363677 recessive myopathy with external ophthalmoplegia 3474 22 Cases 2.0 P * 5 Cases 22 Cases 8 Cases CHIME syndrome 8.6 BP * 4.2 I 20 Cases Cholestasis-lymphedema syndrome Cholestasis-pigmentary 1415 retinopathy-cleft palate syndrome Chondrodysplasia - disorder of 1422 sex development Chondrodysplasia with joint 280586 dislocations, gPAPP type 10 Cases 404507 Chondromyxoid fibroma 3 Cases 25.0 P * 3 Cases 2.1 P 5 Cases Charcot-Marie-Tooth disease 11 Families 70567 Cholangiocarcinoma 3 Families 166 2 Cases 70567 Cholangiocarcinoma 3421 46627 Char syndrome 1 Case 9 Cases 10 Cases Cervical hypertrichosis peripheral neuropathy Channelopathy-associated 88642 congenital insensitivity to pain 18 Cases Choanal atresia-hearing loss1200 cardiac defects-craniofacial dysmorphism syndrome 66625 Cerebro-oculo-nasal syndrome 2218 13 Cases 75 Cases 13 Cases 169079 Cernunnos-XLF deficiency CHARGE syndrome 137914 Choanal atresia 0.35 I * Cerebroretinal vasculopathy 138 1 Family 5 Cases 1414 50 Cases 5 Cases 2 Cases 4 Cases 50 Cases 55880 Chondrosarcoma 0.24 I * 251899 Choroid plexus carcinoma 0.01 I * 1433 Choroidal atrophy - alopecia 180 Choroideremia 2 Cases 1.5 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 15 ORPHA Number 1435 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Choroideremia - deafness obesity 4 Cases 85278 Christianson syndrome 435988 30 Cases Chronic atrial and intestinal dysrhythmia syndrome 17 Cases 2137 Chronic autoimmune hepatitis 23.5 P 2137 Chronic autoimmune hepatitis 1.2 I Chronic diarrhea due to 314373 guanylate cyclase 2C overactivity 32 Cases 379 Chronic granulomatous disease 0.46 BP 396 Chronic hiccup 1.0 P * 2932 Chronic inflammatory demyelinating polyneuropathy 3.7 P * 521 Chronic myeloid leukemia 6.0 P * 521 Chronic myeloid leukemia 1.25 I * 95426 101959 101959 324964 324964 70591 263463 Chronic pain requiring intraspinal analgesia Chronic primary adrenal insufficiency Chronic primary adrenal insufficiency Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis Chronic thromboembolic pulmonary hypertension CHST3-related skeletal dysplasia ORPHA Number Disease or Group of diseases Classic congenital adrenal hyperplasia due to 21315306 hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21315306 hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21315311 hydroxylase deficiency, simple virilizing form Classic endocrine tumor of 329977 appendix 79239 Classic galactosemia 12.0 P * 14.0 P * 0.4 I * 0.3 P 3.0 P * 2 Cases 2.38 I * 1.65 P * 394 Classic homocystinuria 0.3 BP 2584 Classic mycosis fungoides 0.5 I * 1995 Cleft lip - retinopathy 2 Cases 2001 Cleft lip/palate - intestinal malrotation - cardiopathy 4 Cases 2014 Cleft palate 0.4 BP * 2 Cases 284448 CLIPPERS 50 Cases 1 Case 314629 CLN11 disease 2 Cases 200 Cases 352709 CLN13 disease 4 Cases 17 Cases 93929 Cloacal exstrophy 0.54 BP 140944 CLOVE syndrome 20 Cases 1.35 P * 7 Cases 53721 Cobb syndrome 168984 CLAPO syndrome 6 Cases 51577 Cobblestone lissencephaly 7.0 P * 7.0 BP 15 Cases Cloverleaf skull - multiple 93267 congenital anomalies COASY protein-associated 397725 neurodegeneration 251383 CK syndrome Classic congenital adrenal 90794 hyperplasia due to 21hydroxylase deficiency Classic congenital adrenal 90794 hyperplasia due to 21hydroxylase deficiency 11 Cases 0.1 P Cleidorhizomelic syndrome 247525 Citrullinemia type I 2 Cases Cleidocranial dysplasia 1453 55 Cases 2 Cases 1452 Cleidocranial dysplasia Circumscribed palmoplantar hypokeratosis Cirrhosis-dystonia309854 polycythemiahypermanganesemia syndrome 53.6 BP * Cleft palate - short stature vertebral anomalies Cleft palate - stapes fixation 2010 oligodontia Cleft palate-lateral synechia 2016 syndrome 1452 69744 2.1 I * Classic homocystinuria 3 Cases CINCA syndrome 0.25 I Classic Hodgkin lymphoma 25 Cases 1451 2.5 P * 394 93971 Chudley-Lowry-Hoar syndrome CIDEC-related familial partial 435651 lipodystrophy 7.5 BP * 2015 2.5 I Chylomicron retention disease 7.5 P * 391 314597 Chudley-McCullough syndrome 71 Number of Estimated published prevalence/incidence cases or (/100,000) families 3 Cases 2 Cases 35 Cases 1.0 BP * Cobblestone lissencephaly 352682 without muscular or ocular involvement 4 Cases 191 Cockayne syndrome 0.27 BP * 191 Cockayne syndrome 0.5 I * 1458 CODAS syndrome 192 Coffin-Lowry syndrome 12 Cases 1.5 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 16 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 1465 Coffin-Siris syndrome 190 Cases 1466 COFS syndrome 20 Cases 263508 COG1-CDG 3 Cases 435934 COG2-CDG 1 Case 263501 COG4-CDG 2 Cases 263487 COG5-CDG 9 Cases 79333 COG7-CDG 9 Cases 95428 COG8-CDG 2 Cases 1467 300 Cases Cogan syndrome Cognitive impairment-coarse facies-heart defects-obesity444077 pulmonary involvement-short stature-skeletal dysplasia syndrome 193 2050 424099 435930 35909 440727 169090 217390 445018 397964 317428 431149 314689 231154 324535 369913 Disease or Group of diseases Combined oxidative 420728 phosphorylation deficiency type 20 Combined oxidative 420733 phosphorylation deficiency type 21 Combined oxidative 444013 phosphorylation deficiency type 23 Combined oxidative 444458 phosphorylation deficiency type 24 Complement component 3 280133 deficiency Complete androgen 99429 insensitivity syndrome Complete androgen 99429 insensitivity syndrome 1329 Complete atrioventricular canal 6 Cases 268316 Complication in hemodialysis Cole-Carpenter syndrome 4 Cases Cone dystrophy with 209932 supernormal rod response Coloboma of macula brachydactyly type B Colobomatous microphthalmiarhizomelic dysplasia syndrome Colobomatous optic discmacular atrophychorioretinopathy syndrome Combined deficiency of factor V and factor VIII Combined hamartoma of the retina and retinal pigment epithelium Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to LRBA deficiency Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency T+ B+ due to partial RAG1 deficiency Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 17 Number of Estimated published prevalence/incidence cases or (/100,000) families 2 Cases 2 Cases 11 Cases 3 Cases 15 Cases 0.83 P 3.0 I * 20.0 BP * 98949 Complete cryptophthalmia 0.1 P * Cold-induced sweating syndrome 36205 Collagenous colitis 1471 200 Cases Cohen syndrome 31824 Colchicine poisoning 157820 3 Cases ORPHA Number 3.35 I 12 Cases 5 Families 3 Cases 120 Cases 10 Cases 11 Cases 23 Cases 3 Cases 6 Cases 1 Case 7 Cases 13.0 I * 45 Cases 1872 Cone rod dystrophy 973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 418 Congenital adrenal hyperplasia 418 Congenital adrenal hyperplasia 6.7 BP * Congenital adrenal hyperplasia 13.35 I * 418 0.5 P * 15 Cases Congenital adrenal hyperplasia 90791 due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia 90795 due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia 90795 due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia 90793 due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia 95699 due to cytochrome P450 oxidoreductase deficiency Congenital alveolar capillary 210122 dysplasia Congenital amegakaryocytic 3319 thrombocytopenia 2.5 P * 2 Families 10.0 P * 68 Cases 0.47 P * 0.75 BP * 0.1 P * 0.75 BP * 40 Cases 100 Cases 86816 Congenital analbuminemia 50 Cases 9 Cases 1195 16 Cases 5 Cases Congenital bilateral absence of vas deferens Congenital bile acid synthesis 79302 defect type 3 Congenital atransferrinemia 48 5 Cases 50.0 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 17 ORPHA Number 79095 71278 2040 1369 330054 300313 48431 329242 2140 137 85 98870 293825 103910 231573 79277 Disease or Group of diseases Congenital bile acid synthesis defect type 4 Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital bronchobiliary fistula Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy Congenital cataract progressive muscular hypotonia - hearing loss - developmental delay Congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataracts - facial dysmorphism - neuropathy Congenital chronic diarrhea with protein-losing enteropathy Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia type III Congenital dyserythropoietic anemia type IV Congenital enterocyte heparan sulfate deficiency Congenital erosive and vesicular dermatosis Congenital erythropoietic porphyria Number of Estimated published prevalence/incidence cases or (/100,000) families 5 Cases 2 Cases 35 Cases 40 Cases 3 Cases 5 Cases 160 Cases 2 Cases 30.0 BP 1.5 BP * 4 Cases 3 Cases 17 Cases 0.065 I * 0.05 P * 326 Congenital factor V deficiency 0.1 P * 327 Congenital factor VII deficiency 0.33 P * 329 Congenital factor XI deficiency 0.1 P * 331 Congenital factor XIII deficiency 0.05 P * 331 Congenital factor XIII deficiency 0.04 I * Congenital fibrinogen deficiency Congenital generalized 1023 hypertrichosis, Ambras type 335 0.15 P * 40 Cases 98976 Congenital glaucoma 3.6 BP * 60041 Congenital heart block 4.54 BP 88991 Congenital heart malformation 7.8 BP * Congenital hereditary endothelial dystrophy type I Congenital hereditary facial 306530 paralysis with variable hearing loss 98975 Number of Estimated published prevalence/incidence cases or (/100,000) families Congenital hydrocephalus 46.5 BP * 442 Congenital hypothyroidism 38.0 BP * Congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to transplacental passage of 95715 maternal TSH-binding inhibitory antibodies Congenital ichthyosis 2271 microcephalus - tetraplegia Congenital ichthyosis352333 intellectual disability-spastic quadriplegia syndrome Congenital insensitivity to pain 217399 with hyperhidrosis Congenital intrauterine 1229 infection-like syndrome Congenital intrinsic factor 332 deficiency Congenital isolated 657 hyperinsulinism Congenital isolated thyroxine209893 binding globulin deficiency 95711 21.3 P * 1.0 P * 2 Cases 2 Cases 2 Cases 30 Cases 100 Cases 2.0 BP 46.0 P * 17 Cases Congenital lethal erythroderma Congenital lethal myopathy, 210163 Compton-North type 3 Families Congenital factor II deficiency Disease or Group of diseases 2185 1954 0.16 BP * 325 ORPHA Number 68 Cases 13 Cases 1928 Congenital lobar emphysema 4 Cases 4.0 BP Congenital malabsorptive 83620 diarrhea due to paucity of enteroendocrine cells 7 Cases 93109 Congenital megacalycosis 25 Cases Congenital membranous nephropathy due to maternal 69063 anti-neutral endopeptidase alloimmunization Congenital microcephalysevere encephalopathy391376 progressive cerebral atrophy syndrome Congenital muscular dystrophy 157973 due to LMNA mutation Congenital muscular dystrophy 280671 due to phosphatidylcholine biosynthesis defect Congenital muscular dystrophy 258 type 1A Congenital muscular dystrophy 34520 with integrin alpha-7 deficiency Congenital muscular dystrophy 329178 with intellectual disability and severe epilepsy Congenital myasthenic 590 syndrome Congenital myopathy with 424107 myasthenic-like onset Congenital myopathy, Paradas 199329 type 15 Cases 9 Cases 15 Cases 19 Cases 0.3 P * 0.03 P * 3 Cases 0.3 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 18 ORPHA Number 306504 168486 369852 79394 2772 Disease or Group of diseases Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome Congenital neuronal ceroid lipofuscinosis Congenital neutropeniamyelofibrosis-nephromegaly syndrome Congenital non-bullous ichthyosiform erythroderma Congenital osteogenesis imperfecta - microcephaly cataracts Number of Estimated published prevalence/incidence cases or (/100,000) families 3 Cases 10 Cases 7 Cases 0.3 P * 3 Cases 313906 Congenital pancreatic cyst 10 Cases 139414 Congenital panfollicular nevus 2 Cases 66630 2444 2414 3189 281190 Congenital pseudoarthrosis of clavicle Congenital pulmonary airway malformation Congenital pulmonary lymphangiectasia Congenital pulmonary valve stenosis Congenital reticular ichthyosiform erythroderma 200 Cases 8.2 BP * 100 Cases 39.3 BP * 40 Cases 290 Congenital rubella syndrome 0.35 BP * 290 Congenital rubella syndrome 0.03 I * Congenital short bowel syndrome Congenital sideroblastic anemia-B-cell 369861 immunodeficiency-periodic fever-developmental delay syndrome 2301 41 Cases 16 Cases 103908 Congenital sodium diarrhea Congenital stromal corneal dystrophy Congenital sucrase-isomaltase 35122 deficiency Congenital total pulmonary 99125 venous return anomaly 15 Cases 101068 858 Congenital toxoplasmosis Congenitally corrected 216694 transposition of the great arteries Congenitally short 2391 costocoracoid ligament Congenitally uncorrected 860 transposition of the great arteries 420794 Cono-spondylar dysplasia Contractures - ectodermal dysplasia - cleft lip/palate Contractures-developmental 436003 delay-Pierre Robin syndrome 1484 5 Families ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Contractures-webbed neck314002 micrognathia-hypoplastic nipples syndrome 2 Cases 1487 Cooks syndrome 11 Cases 1488 Cooper-Jabs syndrome 2 Cases Corneal dystrophy - perceptive 1490 deafness Corneal intraepithelial dyskeratosis-palmoplantar 352662 hyperkeratosis-laryngeal dyskeratosis syndrome 3177 10 Cases 2 Cases 2 Cases Corneal-cerebellar syndrome 199 Cornelia de Lange syndrome 1.9 P * 199 Cornelia de Lange syndrome 1.0 BP * Cortical blindness - intellectual disability - polydactyly Cortical dysgenesis with 300570 pontocerebellar hypoplasia due to TUBB3 mutation Corticosteroid-sensitive aseptic 54251 abscess syndrome 1389 3071 Costello syndrome 3 Cases 12 Cases 49 Cases 300 Cases 201 Cowden syndrome 1508 Coxoauricular syndrome 0.5 P * 4 Cases 1509 Coxopodopatellar syndrome 47 Cases 1525 Cranio-osteoarthropathy 30 Cases 1513 Craniodiaphyseal dysplasia 20 Cases 1514 Craniodigital syndrome intellectual disability 5 Cases 1515 Cranioectodermal dysplasia 39 Cases 85168 Craniofacial conodysplasia 1 Family Craniofacial dysplasia314555 osteopenia syndrome 5 Cases 1516 14 Cases Craniofacial dyssynostosis Craniofacial-deafness-hand 1529 syndrome Craniofrontonasal dysplasia 1521 Poland anomaly 20.0 P * 9.0 BP 33.0 BP * 3 Cases 3 Cases 50814 Craniolenticulosutural dysplasia 1522 3.0 BP 1 Family 28 Cases 160 Cases Craniometaphyseal dysplasia 54595 Craniopharyngioma 2.0 P * 54595 Craniopharyngioma 1.0 I 157832 Craniorhiny 24.25 BP * 1531 3 Cases 2 Cases 6 Cases Craniosynostosis Craniosynostosis - anal 85199 anomalies - porokeratosis Craniosynostosis - Dandy1538 Walker malformation hydrocephalus 3 Families 24.3 BP * 9 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 19 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Craniosynostosis dysmorphism - brachydactyly Craniosynostosis - fibular 1533 aplasia Craniosynostosis hydrocephalus - Arnold-Chiari 171839 malformation type I - radioulnar synostosis Craniosynostosis - intracranial 52054 calcifications 1535 1541 1527 5 Cases 2 Cases Craniosynostosis, Philadelphia type 90290 CREST syndrome 204 Creutzfeldt-Jakob disease 0.15 I 205 Crigler-Najjar syndrome 1545 Crisponi syndrome 1461 Criss-cross heart 2930 Cronkhite-Canada syndrome 207 Crouzon disease 0.1 BP * 30 Cases 0.8 BP * 0.9 BP * 0.1 BP 1546 11.0 I * Cryptomicrotia - brachydactyly - excess fingertip arch Cryptosporidiosis - chronic 357329 cholangitis - liver disease 1547 2 Cases 5 Cases 1.0 P * 9 Cases Curry-Jones syndrome 96253 Cushing disease 4.0 P * 96253 Cushing disease 0.2 I * 553 Cushing syndrome 6.5 P * 553 Cushing syndrome 1.55 I * 189427 280779 535 79140 79140 2881 1555 209 Cushing syndrome due to macronodular adrenal hyperplasia Cutaneous collagenous vasculopathy Cutaneous lupus erythematosus Cutaneous neuroendocrine carcinoma Cutaneous neuroendocrine carcinoma Cutaneous photosensitivity lethal colitis Cutis gyrata - acanthosis nigricans - craniosynostosis Cutis laxa 300 Cases 0.1 P * 1 Family 400 Cystic echinococcosis 1.0 I * 586 Cystic fibrosis 7.4 P * Cystic fibrosis - gastritis megaloblastic anemia Cystic hamartoma of lung and 2111 kidney Cystic leukoencephalopathy 85136 without megalencephaly 5 Cases 50 Cases 213 Cystinosis 0.75 BP 214 Cystinuria 14.0 P Cytomegalovirus disease in patients with impaired cell 137698 mediated immunity deemed at risk Cytophagic histiocytic 94087 panniculitis Czech dysplasia, metatarsal 137678 type 2437 6 Families 25.5 P * 100 Cases 20 Cases 3 Cases Czeizel-Losonci syndrome 356978 D,L-2-hydroxyglutaric aciduria 13 Cases 79315 D-2-hydroxyglutaric aciduria 80 Cases 1562 5 Cases Dacryocystitis - osteopoikilosis Dahlberg-Borer-Newcomer syndrome Dandy-Walker malformation 1566 postaxial polydactyly 1563 218 Darier disease 300536 DDOST-CDG 0.08 P * 2962 20 Cases 50.0 P * 4.0 P * 0.27 I 3 Cases De Barsy syndrome Deaf blind hypopigmentation 3214 syndrome, Yemenite type Deafness - enamel hypoplasia 3220 nail defects Deafness - genital anomalies 3224 metacarpal and metatarsal synostosis 90646 Deafness - hypogonadism Deafness - intellectual disability, Martin-Probst type Deafness - lymphedema 3226 leukemia 85321 6 Cases 0.1 BP * 2 Cases 75381 Cystoid macular dystrophy 500 Cases Crouzon syndrome - acanthosis 93262 nigricans 1553 Cyclic neutropenia 4 Cases 2575 0.1 P * Currarino triad 3 Cases Cyprus facial2674 neuromusculoskeletal syndrome 8.0 P * Creutzfeldt-Jakob disease 1552 Number of Estimated published prevalence/incidence cases or (/100,000) families Cutis laxa with severe 221145 pulmonary, gastrointestinal and urinary anomalies Cutis marmorata 1556 telangiectatica congenita 2686 1 Family 204 Cryptococcosis Disease or Group of diseases 4 Cases 19 Cases Craniosynostosis, Boston type ORPHA Number 3239 Deafness - vitiligo - achalasia 2 Cases 2 Cases 3.4 P * 1 Case 40 Cases 2 Cases 6 Cases 2 Cases 5 Cases 3 Cases 20 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 20 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Deafness with labyrinthine 90024 aplasia, microtia, and microdontia 6 Families 94064 Deafness-infertility syndrome 3 Families 3231 Deafness-onychodystrophy syndrome 99970 Dedifferentiated liposarcoma 50 Cases 0.27 I * Deficiency in anterior pituitary 293978 function-variable immunodeficiency syndrome 7 Cases 1578 Dehydratase deficiency 21 Cases 3202 Dehydrated hereditary stomatocytosis 20 Families 1627 Deletion 5q35 10 Cases 79134 DEND syndrome 99828 Dengue fever 93571 Dense deposit disease 1652 40 Cases 714.0 I 2.5 P 250 Families Dent disease 99789 Dentin dysplasia type I 1.0 P * 99791 Dentin dysplasia type II 49042 Dentinogenesis imperfecta Dentinogenesis imperfecta 71267 short stature - hearing loss intellectual disability Dentinogenesis imperfecta type 166260 2 220 1656 19 Families 14.5 P * Dermatitis herpetiformis 14.6 P * 200 Cases Dermato-cardio-skeletal syndrome, Borrone type Dermatofibrosarcoma 31112 protuberans 27.0 P * 1266 3 Families 10.0 P * 1659 Dermatoleukodystrophy 221 Dermatomyositis 6.0 P * 221 Dermatomyositis 0.55 I * Disease or Group of diseases 4 Cases 628 628 Diastrophic dwarfism 1.2 P * Diastrophic dwarfism 0.1 BP * 370046 Didymosis aplasticosebacea 5.25 I 90060 Diffuse alveolar hemorrhage 1.0 P * Diffuse cerebral and cerebellar atrophy-intractable seizures404437 progressive microcephaly syndrome 4 Cases 79456 Diffuse cutaneous mastocytosis 30 Cases Diffuse large B-cell lymphoma 16.0 P * Diffuse neonatal 2123 hemangiomatosis Diffuse palmoplantar 86918 keratoderma-acrocyanosis syndrome Digital anomalies - intellectual 352487 disability - short stature 1146 Digitotalar dysmorphism 226 Dihydropteridine reductase deficiency 70 Cases 10 Cases 8 Cases 10.0 P 150 Cases 38874 Dihydropyrimidinuria 2 Cases 79168 Disorder of bile acid synthesis 1425 Desbuquois syndrome 50 Cases 873 Desmoid tumor Disorder of sex development intellectual disability Disseminated peritoneal 71274 leiomyomatosis Distal 7q11.23 microdeletion 254351 syndrome Distal 7q11.23 microduplication 261102 syndrome Distal 17p13.1 microdeletion 319171 syndrome Distal 17p13.3 microdeletion 261257 syndrome 0.3 I * 300 Cases 9 Cases 9 Cases 1 Family 22 Cases 7 Cases Dilated cardiomyopathy 2229 hypergonadotropic hypogonadism Dimethylglycine 243343 dehydrogenase deficiency 14 Cases Developmental and speech delay due to SOX5 deficiency Developmental delay 163988 deafness, Hildebrand type Developmental delay with 329195 autism spectrum disorder and gait instability 18 Cases Differentiated thyroid carcinoma 146 Dermo-odonto dysplasia 313892 30 Cases 10 Cases 1660 35107 Desmosterolosis 2 Cases Diaphragmatic defect - limb 2141 deficiency - skull defect 5 Cases Desmoplastic small round cell tumor 4 Cases 66637 Diaphanospondylodysostosis Dermatoosteolysis, Kirghizian 1657 type 83469 Number of Estimated published prevalence/incidence cases or (/100,000) families Developmental delaymicrocephaly-facial 363444 dysmorphism syndrome, Hutterite type Developmental malformations 79107 deafness - dystonia Dianzani autoimmune 275523 lymphoproliferative disease 544 2 Cases Denys-Drash syndrome ORPHA Number 227 Diphallia 2983 399096 Distal anoctaminopathy 20 Families 1 Case 0.02 BP 0.6 P * 3 Cases 150 Cases 41 Cases 4 Cases 16 Cases 14 Cases 8 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 21 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families ORPHA Number 329457 Distal arthrogryposis type 5D 7 Families 1203 251515 Distal arthrogryposis type 10 53 Cases 314621 Distal limb deficiencies 1307 micrognathia syndrome 4 Cases 96125 Distal monosomy 6p 35 Cases 96148 Distal monosomy 10q 40 Cases 280325 Distal monosomy 12p 8 Cases 3248 1745 1 Family Dyschromatosis symmetrica hereditaria 300 Cases 37 Cases 12 Cases 85198 Dysspondyloenchondromatosis 16 Cases 210571 Dystonia 16 12 Cases 412217 Dystonia-aphonia syndrome 2 Cases 40 Cases 91131 DK1-CDG 4 Cases Dominant hypophosphatemia 244305 with nephrolithiasis or osteoporosis 10 Cases 50 Cases Donnai-Barrow syndrome 79500 DOORS syndrome 50 Cases 0.5 P Dopa-responsive dystonia due 70594 to sepiapterin reductase deficiency Dopamine beta-hydroxylase 230 deficiency 43 Cases 21 Cases 0.5 BP 60 Cases 86309 DPAGT1-CDG 3 Cases 79322 DPM1-CDG 14 Cases 263494 DPM3-CDG 33069 Dravet syndrome Dyschondrosteosis - nephritis 2 Cases 70 Cases Double uterus - hemivagina renal agenesis 1765 12 Cases 404546 DITRA 3411 60 Cases Dysmorphism - short stature 2282 deafness - disorder of sex development 9 Cases Double outlet left ventricle Dyggve-Melchior-Clausen disease Dyskeratosis congenita 40 Cases 3427 239 1775 12 Cases Distal trisomy 6p Dopa-responsive dystonia 300 Cases Dysequilibrium syndrome Distal Xq28 microduplication 293939 syndrome 255 Duplication of urethra 1766 96102 Distal trisomy 10q 2143 237 24 Cases 5 Families 314588 Distal tetrasomy 15q 9.0 BP * 38 Cases 4 Cases Distal symphalangism Duodenal atresia Number of Estimated published prevalence/incidence cases or (/100,000) families Duplication of the pituitary gland 41 Distal myopathy with anterior tibial onset Distal myopathy with early 34521 respiratory muscle involvement Distal myopathy with posterior 63273 leg and anterior hand involvement Distal myopathy with vocal 600 cord weakness 178400 Disease or Group of diseases 1 Case 2.5 BP Dystrophic epidermolysis 303 bullosa Dystrophic epidermolysis 89843 bullosa pruriginosa Dystrophic epidermolysis 158676 bullosa, nails only Ear-patella-short stature 2554 syndrome Early infantile epileptic 369894 encephalopathy without suppression burst Early myoclonic 1935 encephalopathy Early onset epileptic encephalopathy-cortical 411986 blindness-intellectual disabilityfacial dysmorphism syndrome Early-onset generalized limb256 onset dystonia 0.1 P * 0.7 P 100 Families 10 Families 67 Cases 2 Cases 80 Cases 3 Cases 0.4 P * 324290 Early-onset Lafora body disease 3 Cases Early-onset progressive 352654 neurodegeneration - blindness ataxia - spasticity Early-onset spastic ataxia313772 neuropathy syndrome Early-onset X-linked isolated 98890 optic atrophy 3 Cases 2 Cases 4 Families 199343 EAST syndrome 5 Cases 391320 East Texas bleeding disorder 1 Family 50817 Duane anomaly - myopathy scoliosis 233 Duane retraction syndrome 10.0 P * 1880 Ebstein malformation 1.25 P * 235 Dubowitz syndrome 0.2 BP * 1880 Ebstein malformation 3.5 BP * 2 Cases 98896 Duchenne muscular dystrophy 4.78 P 98896 Duchenne muscular dystrophy 15.1 BP * 1203 Duodenal atresia 9.0 P * 319218 Ebola hemorrhagic fever Ectodermal dysplasia 1806 blindness Ectodermal dysplasia 247827 cutaneous syndactyly syndrome 28220 Cases 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 22 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Ectodermal dysplasia syndactyly syndrome Ectodermal dysplasia, Berlin 1816 type Ectopia lentis - chorioretinal 1884 dystrophy - myopia 247820 6 Cases 4 Cases 4 Cases 293936 EDICT syndrome 4 Families 1896 EEC syndrome 300 Cases 1897 EEM syndrome 7 Families 98249 Ehlers-Danlos syndrome 230839 Ehlers-Danlos syndrome due to tenascin-X deficiency 90309 Ehlers-Danlos syndrome type 1 230851 287 1901 75501 285 300179 1900 2953 75392 157965 286 230845 1902 0.5 BP * Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular-like type 12.5 P * 6 Cases 1.0 BP 62 Cases 6 Cases 1.0 P * 196 Cases 40.08 P 3165 Eosinophilic fasciitis 200 Cases 2070 Eosinophilic gastroenteritis 280 Cases 183 Eosinophilic granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis Ependymal tumor 1.5 P 0.18 I * 0.2 I * 0.2 I * Epibulbar lipodermoid 231742 preauricular appendage polythelia 1 Family 35125 Epidermal nevus syndrome 400 Cases 302 Epidermodysplasia verruciformis 200 Cases 304 Epidermolysis bullosa simplex 1.8 P 304 Epidermolysis bullosa simplex 2.2 BP * Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex 412189 due to exophilin 5 deficiency Epidermolysis bullosa simplex 257 with muscular dystrophy Epidermolysis bullosa simplex, 79401 Ogna type Epilepsy - microcephaly 1948 skeletal dysplasia 1951 50 Cases Epimetaphyseal skeletal 1819 dysplasia 228240 Elastoderma 4 Cases Emery-Dreifuss muscular dystrophy Encephalocraniocutaneous 2396 lipomatosis Encephalopathy due to 79155 hydroxykynureninuria Encephalopathy due to 139406 prosaposin deficiency Encephalopathy due to sulfite 833 oxidase deficiency 73247 Eosinophilic esophagitis 3 Cases 6 Cases 261 5.7 P * 412181 22 Cases Ehrlichiosis Ellis Van Creveld syndrome 85438 Enthesitis-related arthritis 402035 Eosinophilic colitis 251636 Ependymoma 1 Family 4 Cases 3.7 P 301 7 Cases 6 Cases 60015 Enlarged parietal foramina 183 5.0 P Number of Estimated published prevalence/incidence cases or (/100,000) families Endocrine-cerebroosteodysplasia syndrome Endosteal sclerosis - cerebellar 85186 hypoplasia 5.0 P * 6 Cases Disease or Group of diseases 199332 10 Cases 79106 Eiken syndrome 289 ORPHA Number 1.1 BP 0.3 P * 77 Cases 30 Cases 10 Cases 2 Cases 3 Cases 40 Cases 6 Families 2 Cases 6 Cases Epilepsy telangiectasia 4 Cases 79135 Episodic ataxia type 3 1 Family 79136 Episodic ataxia type 4 2 Families 211067 Episodic ataxia type 5 7 Cases 209967 Episodic ataxia type 6 4 Cases 209970 Episodic ataxia type 7 7 Cases 401953 Episodic ataxia with slurred speech 93928 Epispadias Epithelial recurrent erosion dystrophy Epithelio-exfoliative colitis 103912 deafness Epstein-Barr virus-associated 313920 gastric carcinoma 13 Cases 2.4 BP * 293381 100 Cases 296 Enchondromatosis 1.0 P * 877 Endocrine tumor 2.53 I * 186 Cases 2 Cases 1.2 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 23 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families ORPHA Number 500 Cases 238722 35687 Erdheim-Chester disease 999 Ermine phenotype 317 Erythrokeratodermia variabilis 1199 Esophageal atresia 1957 Esthesioneuroblastoma 3 Cases 200 Cases 24.3 BP * 0.02 I * 51188 Ethylmalonic encephalopathy 40 Cases 1959 Evans syndrome 0.1 P * 319 Ewing sarcoma 0.13 I * Extraskeletal myxoid 209916 chondrosarcoma Eyebrow duplication 3172 syndactyly 324 352712 1970 412022 85162 1973 269 Fabry disease 0.2 P * 3 Cases 0.22 BP * Facial dysmorphism immunodeficiency - livedo short stature Facial dysmorphism macrocephaly - myopia - DandyWalker malformation Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial onset sensory and motor neuronopathy 11 Cases 3 Cases FADD-related immunodeficiency Fallot complex - intellectual 3304 disability - growth delay Familial acute necrotizing 88619 encephalopathy Familial adenomatous 733 polyposis Familial Alzheimer-like prion 280397 disease 4 Families 4 Cases 4 Cases 4.5 P * 4 Cases 5 Cases 11 Cases 6.0 P * 2 Cases 228277 Familial anetoderma 12 Families Familial atrial tachyarrhythmia436242 infra-Hisian cardiac conduction disease Familial calcium pyrophosphate 1416 deposition 221061 1428 444490 238578 11 Cases 24 Cases 6 Families 18 Cases 5 Families 28 Cases 21 Cases 50 Cases 7 Families 424 23 Cases Familial hyperthyroidism due to mutations in TSH receptor Familial infantile myoclonic 352582 epilepsy Familial isolated dilated 154 cardiomyopathy Familial isolated dilated 154 cardiomyopathy Familial isolated 2238 hypoparathyroidism Familial isolated 2239 hypoparathyroidism due to agenesis of parathyroid gland Familial isolated pituitary 314777 adenoma Familial isolated restrictive 75249 cardiomyopathy 28 Families 100 Families 4 Cases 15.0 P 5 Families 1.0 P * 10 Cases 3 Cases 7 Cases 17.5 P * 2.91 I * 10 Families 2 Families 150 Cases 2.5 P * 79293 Familial LCAT deficiency 768 7 Cases Familial caudal dysgenesis Familial cerebral cavernous malformation Familial chondromalacia patellae Familial chylomicronemia syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Familial congenital mirror movements Familial cutaneous telangiectasia and 313846 oropharyngeal predisposition cancer syndrome Familial developmental 1799 dysphasia Familial dyskinesia and facial 324588 myokymia Familial encephalopathy with 85110 neuroserpin inclusion bodies Familial episodic pain 391392 syndrome with predominantly lower limb involvement Familial episodic pain 391389 syndrome with predominantly upper body involvement Familial glucocorticoid 361 deficiency Familial hyperaldosteronism 251274 type III 300373 Familial infantile gigantism 306550 1768 Number of Estimated published prevalence/incidence cases or (/100,000) families 238475 Familial hypercholanemia Faciocardiorenal syndrome Facioscapulohumeral dystrophy Disease or Group of diseases Familial long QT syndrome 70 Cases 40.0 BP * Familial median cleft of the 401942 upper and lower lips 618 Familial melanoma Familial multiple fibrofolliculoma Familial omphalocele syndrome 280403 with facial dysmorphism Familial or sporadic hemiplegic 569 migraine Familial papillary thyroid 97290 carcinoma with renal papillary neoplasia Familial partial lipodystrophy, 79084 Köbberling type 8 Cases 1.5 I * 338 7 Cases 5 Cases 10.0 P * 2 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 24 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Familial platelet syndrome with 71290 predisposition to acute myelogenous leukemia Familial primary 34526 hypomagnesemia Familial primary hypomagnesemia with 306516 hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with 2196 hypercalciuria and nephrocalcinosis with severe ocular involvement Familial primary hypomagnesemia with 31043 hypercalciuria and nephrocalcinosis without severe ocular involvement Familial primary hypomagnesemia with 34527 normocalciuria and normocalcemia Familial progressive cardiac 871 conduction defect Familial progressive hyper- and 280628 hypopigmentation Familial reactive perforating 79147 collagenosis 20 Families 500 Cases 200 Cases 72 Cases 110 Cases 5 Families 50 Cases 3 Families 50 Cases 5 Families Familial scaphocephaly syndrome, McGillivray type 11 Cases 166282 Familial sick sinus syndrome 11 Cases Familial steroid-resistant 280406 nephrotic syndrome with sensorineural deafness Familial thoracic aortic 91387 aneurysm and aortic dissection 13 Cases 93953 Familial thyroglossal duct cyst Familial thyroid dyshormonogenesis Familial thyroid 95716 dyshormonogenesis 95716 0.3 P 84 Fanconi anemia 0.62 BP * 333 Farber disease 280553 Fatal familial insomnia Fatal infantile hypertonic myofibrillar myopathy 2 Cases 21 Cases 6 Cases 2 Cases 3 Cases 1.0 P * 123 Cases Feingold syndrome 391641 Feingold syndrome type 1 120 Cases 391646 Feingold syndrome type 2 3 Cases Female infertility due to zona 404466 pellucida defect Female restricted epilepsy with 101039 intellectual disability 2019 Femur-fibula-ulna complex Ferro-cerebro-cutaneous 397922 syndrome Fetal akinesia deformation 994 sequence Fetal akinesia-cerebral and 363409 retinal hemorrhage syndrome 1915 853 294 Fetal alcohol syndrome Fetal and neonatal alloimmune thrombocytopenia Fetal cytomegalovirus syndrome 4 Cases 5 Families 1.5 BP * 3 Cases 0.6 BP * 3 Cases 1.6 BP * 112.5 BP * 40.0 P * 50 Cases 22 Cases 1917 Fetal methylmercury syndrome 800 Cases 22 Cases 291 Fetal varicella syndrome 100 Cases FGFR2-related bent bone 313855 dysplasia 2.67 I Fanconi anemia 466 Fatal mitochondrial disease due 168566 to combined oxidative phosphorylation deficiency 3 Fatal multiple mitochondrial 401869 dysfunction syndrome type 1 Fatal multiple mitochondrial 401874 dysfunction syndrome type 2 Fatal post-viral 391343 neurodegenerative disorder FBLN1-related developmental 404451 delay-central nervous system anomaly-syndactyly syndrome Febrile infection-related 163703 epilepsy syndrome Number of Estimated published prevalence/incidence cases or (/100,000) families 85212 Fetal Gaucher disease 4.0 P * 84 FASTKD2-related infantile 166105 mitochondrial encephalomyopathy Fatal congenital hypertrophic 439854 cardiomyopathy due to glycogen storage disease Disease or Group of diseases 1305 231108 Familial rhabdoid tumor 168624 ORPHA Number 2021 Fibrochondrogenesis 337 Fibrodysplasia ossificans progressiva 4 Cases 13 Cases 0.05 P 84090 Fibronectin glomerulopathy 80 Cases 2 Cases 2030 Fibrosarcoma 1118 Fibular aplasia - ectrodactyly 50 Cases 1757 Fibular dimelia - diplopodia 11 Cases 93323 Fibular hemimelia 10 Cases 27 Cases 11 Cases 16 Families 0.01 I * 2.0 P * 3255 Filippi syndrome 32 Cases 1272 Fine-Lubinsky syndrome 5 Cases Finger hyperphalangy-toe 369979 anomalies-severe pectus excavatum syndrome 2 Cases 97232 Fingerprint body myopathy 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 25 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 79292 Fish-eye disease 30 Cases 282 Frontotemporal dementia 3.0 P * 293812 Fixed pigmented erythema 19 Cases 2059 Fryns syndrome 7.0 BP * 98970 Fleck corneal dystrophy 30 Cases 2044 247790 FTH1-related iron overload 4 Cases Floating-Harbor syndrome 87 Cases 349 Fucosidosis 100 Cases 2047 Flynn-Aird syndrome 10 Cases 2854 Fuhrmann syndrome 11 Cases 2092 Focal dermal hypoplasia 300 Cases 24 Fumaric aciduria 100 Cases 352 Galactosemia 2.0 BP * 2.1 I * Focal epilepsy-intellectual 352587 disability-cerebro-cerebellar malformation 7 Cases 352 Galactosemia 398166 Focal facial dermal dysplasia 147 Cases 351 Galactosialidosis 100 Cases 81 Cases 2065 Galloway-Mowat syndrome 60 Cases Focal facial dermal dysplasia type I Focal facial dermal dysplasia 398173 type II Focal facial dermal dysplasia 1807 type III Focal facial dermal dysplasia 398189 type IV 79133 22 Cases 20 Cases 21 Cases 48918 Focal myositis Focal, segmental or multifocal dystonia Focal, segmental or multifocal 1866 dystonia 1866 2048 300552 545 150 Cases Follicular cholangitis and pancreatitis Follicular lymphoma 5 Cases 36.0 P * 0.1 I * 8 Cases Fountain syndrome Foveal hypoplasia - presenile cataract Foveal hypoplasia-optic nerve 397618 decussation defect-anterior segment dysgenesis syndrome 2253 908 Fragile X syndrome 11 Cases 7 Families 32.5 P 137834 Frank-Ter Haar syndrome 5 Cases 120 Cases 38 Cases 9.1 BP Gastric adenocarcinoma and 314022 proximal polyposis of the stomach 28 Cases 100075 Gastric endocrine tumor 3.2 P * 44890 Gastrointestinal stromal tumor 13.0 P * 44890 Gastrointestinal stromal tumor 1.0 I 2368 Gastroschisis 23.7 BP * 355 Gaucher disease 1.0 P * 355 Gaucher disease 1.3 BP 355 Gaucher disease 1.7 I * Gaucher disease 2072 ophthalmoplegia cardiovascular calcification 10 Cases 1.0 P * 77260 Gaucher disease type 2 0.01 P * 88 Cases 77261 Gaucher disease type 3 0.05 P * Free sialic acid storage disease 130 Cases 438274 Freeman-Sheldon syndrome 100 Cases Fraser syndrome 347 Frasier syndrome 834 2053 0.2 BP * 85335 Fried syndrome 1826 9 Cases 77259 Gaucher disease type 1 2052 95 7 Cases GAPO syndrome 79665 Gardner syndrome 2.0 I * 3 Families 100026 Gamma-heavy chain disease 2067 11.7 P * Foix-Chavany-Marie syndrome 228371 Foodborne botulism 3219 115 Cases Gamma-aminobutyric acid 2066 transaminase deficiency Gamma-glutamyl 33573 transpeptidase deficiency Gamma-glutamylcysteine 33574 synthetase deficiency Friedreich ataxia 1 Family 2.0 P * 100 Cases Frontometaphyseal dysplasia Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-severe 306542 microphthalmia-severe facial clefting syndrome 228390 391474 Frontorhiny 5 Cases GCGR-related hyperglucagonemia 79330 GCS1-CDG 3 Cases 2623 27 Cases Geleophysic dysplasia Generalized congenital 228429 lipodystrophy with myopathy Generalized eruptive 411777 keratoacanthoma 98497 Genetic peripheral neuropathy 3 Cases 0.0 P 8 Cases 22 Cases 40 Cases 40.0 P 85201 Genitopatellar syndrome 22 Cases 2077 5 Cases German syndrome 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 26 ORPHA Number Disease or Group of diseases 2078 Geroderma osteodysplastica 643 Giant axonal neuropathy Number of Estimated published prevalence/incidence cases or (/100,000) families 50 Cases 20 Families Gingival fibromatosis - facial dysmorphism Gingival fibromatosis 2027 progressive deafness 2025 358 Gitelman syndrome 2 Cases 2 Families 2.5 P * Glaucoma - ectopia 2084 microspherophakia - stiff joints short stature 3 Cases 2085 Glaucoma - sleep apnea 5 Cases Glaucoma secondary to 238763 spherophakia/ectopia lentis and megalocornea 4 Cases 182067 Glial tumor 10.0 P * 360 Glioblastoma 1.0 P 360 Glioblastoma 3.0 I Global developmental delay osteopenia - ectodermal defect Global developmental delay404476 lung cysts-overgrowth-Wilms tumor syndrome 73223 3 Cases 2 Cases 141163 Glossopalatine ankylosis 97280 Glucagonoma 25 32 407 365 364 79258 79259 2088 367 263297 2089 34587 264580 Glutaryl-CoA dehydrogenase deficiency Glutathione synthetase deficiency Glycine encephalopathy Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type a Glycogen storage disease due to glucose-6-phosphatase deficiency type b Glycogen storage disease due to GLUT2 deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogenin deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease due to LAMP-2 deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency 30 Cases 0.005 I * ORPHA Number Disease or Group of diseases Glycogen storage disease due 137625 to muscle and heart glycogen synthase deficiency Glycogen storage disease due 99849 to muscle beta-enolase deficiency Glycogen storage disease due 371 to muscle phosphofructokinase deficiency Glycogen storage disease due 715 to muscle phosphorylase kinase deficiency Glycogen storage disease due 713 to phosphoglycerate kinase 1 deficiency Glycogen storage disease due 97234 to phosphoglycerate mutase deficiency Glycogen storage disease due 370 to phosphorylase kinase deficiency 354 GM1 gangliosidosis Number of Estimated published prevalence/incidence cases or (/100,000) families 3 Cases 1 Case 30 Cases 30 Cases 30 Families 50 Cases 1.0 BP * 0.75 BP * 79255 GM1 gangliosidosis type 1 200 Cases 79256 GM1 gangliosidosis type 2 50 Cases 79257 GM1 gangliosidosis type 3 70 Cases 309246 GM2 gangliosidosis, AB variant 329984 Goblet cell carcinoma 1.0 BP 65 Cases 66629 10 Cases 0.025 I Goldberg-Shprintzen megacolon syndrome 8 Families 166272 Goldblatt syndrome 0.17 P * 374 0.8 BP * 1.0 BP Goldenhar syndrome 11 Cases 2.8 BP * 53540 Goldmann-Favre syndrome 50 Cases 1986 200 Cases Gollop-Wolfgang complex Gómez-López-Hernández syndrome Gonadal dysgenesis, XY type 1770 associated anomalies 1532 1.0 BP * 150 Cases 200 Cases 34 Cases 2 Cases 169105 Good syndrome 241 Cases 65798 Goodman syndrome 73 Gorham-Stout disease 377 Gorlin syndrome 3 Cases 300 Cases 1.1 P Gorlin-Chaudhry-Moss 2095 syndrome 0.1 BP 1 Case 39812 Graft versus host disease 7 Cases 2.3 P * 79094 Grange syndrome 16 Cases 900 84 Cases 900 Granulomatosis with polyangiitis Granulomatosis with polyangiitis 33111 Granulomatous slack skin 1.0 BP * 721 Gray platelet syndrome 7 Cases 9.0 P * 0.7 I * 50 Cases 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 27 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Grayson-Wilbrandt corneal dystrophy 1 Family 1426 Greenberg dysplasia 10 Cases 381 Griscelli disease 60 Cases 293375 Growth and developmental delay-hypotonia-vision 391348 impairment-lactic acidosis syndrome Growth delay due to insulin73272 like growth factor type 1 deficiency Growth retardation-mild 391366 developmental delay-chronic hepatitis syndrome 2 Cases ORPHA Number Disease or Group of diseases 2130 Hemimelia Number of Estimated published prevalence/incidence cases or (/100,000) families 4.15 P * 79230 Hemochromatosis type 2 74 Cases 225123 Hemochromatosis type 3 33 Cases 139491 Hemochromatosis type 4 200 Cases 280615 Hemoglobinopathy Toms River 10 Cases Hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to 712 glucophosphate isomerase deficiency Hemolytic anemia due to 90030 glutathione reductase deficiency 86817 5 Cases 2 Cases 12 Cases 50 Cases 3 Cases 2102 GTP cyclohydrolase I deficiency 16 Cases 382 Guanidinoacetate methyltransferase deficiency 80 Cases 2103 Guillain-Barré syndrome 3.5 P * 98878 Hemophilia A 4.85 P 2103 Guillain-Barré syndrome 1.45 I 98878 Hemophilia A 11.25 BP 414 Gyrate atrophy of choroid and retina 200 Cases 98879 Hemophilia B 1.7 P * 100 Cases Hemorrhagic disease due to 178396 alpha-1-antitrypsin Pittsburgh mutation 168569 H syndrome 99803 Haddad syndrome 60 Cases 2342 100 Cases 1408 Haim-Munk syndrome Hair defect - photosensitivity intellectual disability 58017 Hairy cell leukemia 3 Cases 0.29 I * Hall-Riggs syndrome 2108 Hallermann-Streiff syndrome 150 Cases 93946 Hamel cerebro-palato-cardiac syndrome 4 Cases 2116 Hartnup disease 2117 Hartsfield-Bixler-Demyer syndrome 6 Cases 2118 Hawkinsinuria 5 Families 1354 Heart defects - limb shortening 1350 Heart-hand syndrome type 2 2 Families 1342 Heart-hand syndrome type 3 3 Cases Heart-hand syndrome, Slovenian type 10 Cases HEC syndrome 2 Cases 2 Cases 178330 Heinz body anemia 86813 90053 306741 276280 448 Hemophilia 6.25 I * 10 Cases 100 Cases 0.65 P * 3 Cases 324632 Hendra virus infection 7 Cases 2136 Hennekam syndrome 50 Cases 2135 Hennekam-Beemer syndrome 2 Cases Hepatic amyloidosis with intrahepatic cholestasis 50 Cases 890 Hepatic veno-occlusive disease 11.0 P * Hepatic veno-occlusive disease 79124 - immunodeficiency 449 4.2 P 50 Cases Helicoid peripapillary chorioretinal degeneration Hematopoietic stem cell transplantation Hemidystonia-hemiatrophy syndrome Hemihyperplasia-multiple lipomatosis syndrome 7.7 P * 8 Cases 99872 Hashimoto-Pritzker syndrome 2119 Hemophilia 102069 2107 168796 448 25 Cases Hepatoblastoma 0.02 I * 88673 Hepatocellular carcinoma 15.0 P * Hepatoerythropoietic 95159 porphyria 91378 Hereditary angioedema Hereditary breast and ovarian 145 cancer syndrome Hereditary cerebral 85458 hemorrhage with amyloidosis 676 Hereditary chronic pancreatitis Hereditary combined deficiency 98434 of vitamin K-dependent clotting factors Hereditary cryohydrocytosis 398088 with normal stomatin Hereditary cryohydrocytosis 168577 with reduced stomatin Hereditary diffuse gastric 26106 cancer 40 Cases 1.0 P * 25.0 P * 350 Cases 0.43 P * 30 Families 53 Cases 2 Cases 1.5 I * 100 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 28 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Hereditary diffuse leukoencephalopathy with 313808 axonal spheroids and pigmented glia Hereditary folate 90045 malabsorption 27 Cases 30 Cases Hereditary fructose intolerance 5.0 P * 774 Hereditary hemorrhagic telangiectasia 16.0 P * 163 217407 79091 324381 523 90117 2590 43115 1062 640 Hereditary hyperekplexia Hereditary hyperferritinemia with congenital cataracts Hereditary hypotrichosis with recurrent skin vesicles Hereditary inclusion body myopathy - joint contractures ophthalmoplegia Hereditary inclusion body myopathy type 4 Hereditary leiomyomatosis and renal cell cancer Hereditary motor and sensory neuropathy, Okinawa type Hereditary myoclonus progressive distal muscular atrophy Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary neurocutaneous angioma Hereditary neuropathy with liability to pressure palsies Number of Estimated published prevalence/incidence cases or (/100,000) families Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and 139573 autonomic neuropathy with deafness and global delay Hereditary sensory and 139578 autonomic neuropathy with spastic paraplegia 685 Hereditary spastic paraplegia 150 Cases Hereditary thrombocytosis with 329319 transverse limb defect 64 Cases 71291 Hereditary vascular retinopathy 4 Cases 3467 275777 19 Cases 17 Cases 200 Cases 120 Cases 10 Cases 3 Cases 4 Cases 12 Cases 5.0 P * 3 Families 9 Families Hereditary xanthinuria 9.05 I * Heritable pulmonary arterial hypertension 0.08 P * 79430 Hermansky-Pudlak syndrome 0.15 P Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak syndrome 231537 type 8 Hermansky-Pudlak syndrome 280663 type 9 Hermansky-Pudlak syndrome 183678 with neutropenia 231531 2 Cases 6 Cases 2 Cases 8 Cases 63261 HERNS syndrome 19 Cases 10 Families 3.5 P * 279943 Hereditary neutrophilia 16 Cases 168583 Hereditary North American Indian childhood cirrhosis 36 Cases 30 Hereditary orotic aciduria 20 Cases 79141 Hereditary painful callosities Hereditary 29072 pheochromocytomaparaganglioma Hereditary progressive 158025 mucinous histiocytosis Hereditary proximal myopathy 178464 with early respiratory failure Hereditary sclerosing 221043 poikiloderma with tendon and pulmonary involvement Hereditary sensorimotor 280598 neuropathy with hyperelastic skin Hereditary sensory and 139564 autonomic neuropathy type 1B Hereditary sensory and 970 autonomic neuropathy type 2 Hereditary sensory and 314381 autonomic neuropathy type 6 Disease or Group of diseases 391397 469 3197 ORPHA Number 2 Families 0.3 I 13 Cases 10 Families 15 Cases 4 Cases 2 Families 35 Cases 4 Cases 1930 Herpes simplex encephalitis 189 Hidrotic ectodermal dysplasia 2 Families 0.3 I 1.0 P * Hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, 1809 Halal type High bone mass osteogenesis 314029 imperfecta High myopia-sensorineural 363396 deafness syndrome 1808 388 Hirschsprung disease 6 Cases 4 Cases 2 Cases 7 Cases 10.9 BP * Hirschsprung disease - deafness 2155 - polydactyly Hirschsprung disease - type D 2150 brachydactyly Hirschsprung disease-nail 2153 hypoplasia-dysmorphism 98293 Hodgkin lymphoma 2 Cases 4 Cases 3 Cases 2.4 I * 93970 Holmes-Gang syndrome 3 Cases 79242 Holocarboxylase synthetase deficiency 0.5 BP * 2162 Holoprosencephaly 13.4 BP * 392 Holt-Oram syndrome 0.7 BP * 2168 Homocarnosinosis Homocystinuria without 622 methylmalonic aciduria Homozygous familial 391665 hypercholesterolemia 4 Cases 73 Cases 0.1 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 29 ORPHA Number 3322 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Hoyeraal-Hreidarsson syndrome 33 Cases 85295 HSD10 disease, atypical type 5 Cases 391457 HSD10 disease, neonatal type 3 Cases 228116 Hughes-Stovin syndrome 30 Cases 3265 Humero-radial synostosis 150 Cases 3266 Humero-radio-ulnar synostosis 30 Cases 94056 Humero-ulnar synostosis 5 Cases Hunter-McAlpine craniosynostosis 10 Cases 97340 399 Huntington disease 2.7 P 399 Huntington disease 0.38 I 98934 Huntington disease-like 2 50 Families Huntington disease-like 401901 syndrome due to C9ORF72 expansions 10 Cases ORPHA Number Disease or Group of diseases Hypergonadotropic 2410 hypogonadism - cataract syndrome Hyperimmunoglobulinemia D 343 with periodic fever Hyperinsulinism due to HNF1A 324575 deficiency Hyperinsulinism due to INSR 263458 deficiency Hyperinsulinism due to short 71212 chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to UCP2 276556 deficiency 682 Hyperkalemic periodic paralysis 1336 Hyperkeratosishyperpigmentation syndrome 412 Hyperlipoproteinemia type 3 415 Hyperornithinemiahyperammonemiahomocitrullinuria syndrome 93473 Hurler syndrome 0.5 P * 93473 Hurler syndrome 0.7 BP * 443098 Hyperostosis cranialis interna 0.005 P 238583 Hyperphenylalaninemia 0.025 BP 247262 740 740 2186 2180 2183 2182 2182 2181 401948 168588 Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome Hydrocephalus - blue sclerae nephropathy Hydrocephalus - costovertebral dysplasia - Sprengel anomaly Hydrocephalus - obesity hypogonadism Hydrocephalus with stenosis of the aqueduct of Sylvius Hydrocephalus with stenosis of the aqueduct of Sylvius Hydrocephaly - tall stature joint laxity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency 1 Family 8 Cases 2 Cases 1.7 BP 2 Cases 4 Cases 11 Cases 2 Cases Hypercholesterolemia due to 209902 cholesterol 7alpha-hydroxylase deficiency Hypercoagulability syndrome due to 83639 glycosylphosphatidylinositol deficiency 24 Cases 2 Cases 163985 Hyperekplexia - epilepsy 168956 Hypereosinophilic syndrome 3260 Hypereosinophilic syndrome of undetermined significance 2 Cases 1.5 P * 10.0 P * Hyperphosphatasia-intellectual disability syndrome Hyperplastic polyposis 157798 syndrome Hypertelorism - hypospadias 2211 polysyndactyly syndrome 1519 3 Cases 200 Cases 2 Cases 10 Cases 10 Cases 2 Cases 0.5 P * 10 Cases 10.0 P 111 Cases 13 Cases 0.2 P 24 Cases 1.0 I 3 Families 20 Cases Hypertelorism, Teebi type Hypertelorism-microtia-facial clefting syndrome Hypertelorism-preauricular 293958 sinus-punctual pits-deafness syndrome Hypertrichosis cubiti - short 2220 stature Hypertrichosis lanuginosa 2222 congenita Hypertrichosis-acromegaloid 966 facial appearance syndrome Hypertrichotic 1517 osteochondrodysplasia, Cantu type Hypertrophic cardiomyopathy 324525 and renal tubular disease due to mitochondrial DNA mutation 2213 1.7 P 276405 Hyperbiliverdinemia Number of Estimated published prevalence/incidence cases or (/100,000) families 2224 9 Cases 13 Cases 28 Cases 100 Cases 20 Cases 40 Cases 3 Cases 12 Cases Hypertryptophanemia Hyperuricemia - anemia - renal 217330 failure Hyperuricemia-pulmonary 363694 hypertension-renal failurealkalosis syndrome 429 36412 Hypochondroplasia Hypocomplementemic urticarial vasculitis 21 Cases 4 Families 3.3 P * 200 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 30 ORPHA Number 989 2233 2230 2235 293967 363523 238468 1882 98813 293964 681 1790 85163 139441 363412 88637 2237 436 Disease or Group of diseases Hypoglossia-hypodactyly syndrome Hypogonadism - mitral valve prolapse - intellectual disability Hypogonadotropic hypogonadism - frontoparietal alopecia Hypogonadotropic hypogonadism - retinitis pigmentosa Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia - hypothyroidism ciliary dyskinesia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypokalemic periodic paralysis Number of Estimated published prevalence/incidence cases or (/100,000) families 47 Cases 2 Cases 6 Cases 2 Cases 4 Cases 12 Cases Hypopigmentation-punctate 324561 palmoplantar keratoderma syndrome Hypoplastic left heart 2248 syndrome Hypoplastic pancreas-intestinal 293864 atresia-hypoplastic gallbalder syndrome Hypoplastic right heart 98723 syndrome Hyposmia - nasal and ocular 2250 hypoplasia - hypogonadotropic hypogonadism Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Hypospadias - hypertelorism coloboma and deafness Hypotonia with lactic acidemia 137908 and hyperammonemia Hypotonia-cerebral atrophy363424 hyperglycinemia syndrome 157788 2 Cases 3 Cases 2 Cases 163690 Hypotonia-cystinuria syndrome 22 Cases 55654 Hypotrichosis simplex 38 Cases Hypotrichosis with juvenile 1573 macular degeneration Hypotrichosis-deafness 330029 syndrome Hypotrichosis-intellectual 2266 disability, Lopes type Hypotrichosis-lymphedema69735 telangiectasia-renal defect syndrome 50 Cases 1 Case 2 Cases 4 Cases 254509 Iatrogenic botulism 6.7 P * 2268 3 Cases 0.2 BP * 5 Cases 1.0 P * Hypomandibular faciocranial dysostosis Hypomyelination - congenital cataract Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypomyelinationhypogonadotropichypogonadism-hypodontia syndrome Hypoparathyroidism - deafness - renal disease Hypophosphatasia ORPHA Number 4 Cases 10 Cases 19 Cases 10 Cases 105 Cases 12 Cases 0.21 BP * 6 Families 24.0 BP Ichthyosis - alopecia - eclabion ectropion - intellectual disability Ichthyosis 2274 hepatosplenomegaly cerebellar degeneration Ichthyosis - hypotrichosis 59303 sclerosing cholangitis Ichthyosis - oral and digital 2272 anomalies Ichthyosis follicularis - alopecia 2273 - photophobia Ichthyosis hystrix of Curth79503 Macklin Ichthyosis prematurity 88621 syndrome Ichthyosis-hypotrichosis 91132 syndrome Ichthyosis-short stature363992 brachydactylymicrospherophakia syndrome 2 Cases 4 Cases 2 Cases 12 Cases 2 Cases 40 Cases 6 Families 16 Families 4 Cases 4 Cases 930 Idiopathic achalasia 8.0 P 930 Idiopathic achalasia 0.77 I Idiopathic acute eosinophilic 724 pneumonia Idiopathic acute transverse 139423 myelitis Idiopathic and/or familial 422 pulmonary arterial hypertension 2810 0.25 I * 1.0 P * 0.4 P * Idiopathic facial palsy 25.0 I Idiopathic neonatal atrial flutter Idiopathic pulmonary arterial 275766 hypertension 2032 100 Cases Idiopathic aplastic anemia 45452 3.3 BP * 66 Cases ICF syndrome 2269 88 16 Cases 180 Cases Idiopathic pulmonary fibrosis 1.5 BP * 1.1 P * 16.7 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 31 ORPHA Number Disease or Group of diseases 2032 Idiopathic pulmonary fibrosis 99931 Idiopathic pulmonary hemosiderosis Number of Estimated published prevalence/incidence cases or (/100,000) families IgG4-related retroperitoneal fibrosis Ileal pouch anal anastomosis 238621 related faecal incontinence 49041 0.0425 I * 140 Cases 3.0 P * 25 Cases 42062 Iminoglycinuria 6.68 P * 42062 Iminoglycinuria 6.67 BP * 37042 3002 3002 572 169100 70592 70593 200418 45453 Immune dysregulationpolyendocrinopathyenteropathy-X-linked syndrome Immune thrombocytopenic purpura Immune thrombocytopenic purpura Immunodeficiency by defective expression of HLA class 2 Immunodeficiency due to CD25 deficiency Immunodeficiency due to interleukin-1 receptorassociated kinase-4 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency with factor I anomaly Incessant infant ventricular tachycardia 136 Cases 25.0 P * 6.75 I * 2 Cases 15 Cases 100 Cases 35 Families 1.5 BP * Inclusion body myositis 0.5 P * 464 Incontinentia pigmenti 0.7 BP * 98848 Indolent systemic mastocytosis 3.8 P * Infant acute respiratory distress syndrome Infant acute respiratory distress 70587 syndrome 70587 20.0 P * 3.5 I * 178478 Infant botulism 0.2 BP * 178478 Infant botulism 0.3 I * 1943 313850 402364 1313 Infant epilepsy with migrant focal crisis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile choroidocerebral calcification syndrome 2591 Infantile myofibromatosis 2 Cases 0.67 BP * Infantile neuroaxonal dystrophy Infantile onset panniculitis with 251304 uveitis and systemic granulomatosis Infantile onset spinocerebellar 1186 ataxia Infantile spams - psychomotor 263410 retardation - progressive brain atrophy - basal ganglia disease Infantile-onset ascending 293168 hereditary spastic paralysis Infantile-onset mesial temporal 391316 lobe epilepsy with severe cognitive regression 247257 Inhalational anthrax 100 Cases 611 Number of Estimated published prevalence/incidence cases or (/100,000) families 35069 0.35 I * 85173 IMAGe syndrome Disease or Group of diseases Infantile hypertrophic 352563 cardiomyopathy due to MRPL44 deficiency 3.81 I * 90003 IgG4-related hepatopathy ORPHA Number 29 Cases 11 Cases 5 Cases 10 Cases 199267 Infantile digital fibromatosis 200 Cases 238455 Infantile dystonia-parkinsonism 16 Cases 150 Cases 4 Cases 24 Cases 4 Cases 17 Families 3 Cases 0.1 P * 254504 Inhalational botulism 10 Cases Inherited congenital spastic 210141 tetraplegia 5 Cases 79361 Inherited epidermolysis bullosa 0.8 P * 79361 Inherited epidermolysis bullosa 1.9 BP * 63259 Iniencephaly 50.0 P * 411593 Insulin autoimmune syndrome 97279 Insulinoma Intellectual disability - balding 3041 patella luxation - acromicria Intellectual disability - cataracts 171860 - kyphosis Intellectual disability 329224 craniofacial dysmorphism cryptorchidism Intellectual disability 3044 dysmorphism - hypogonadism diabetes mellitus Intellectual disability 1495 hypoplastic corpus callosum preauricular tag Intellectual disability 356996 hypotonia - spasticity - sleep disorder Intellectual disability - obesity 352530 brain malformations - facial dysmorphism Intellectual disability - sparse 3051 hair - brachydactyly Intellectual disability, Birk-Barel 166108 type Intellectual disability-coarse 397709 face-macrocephaly-cerebellar hypotrophy syndrome 404 Cases 0.25 I 5 Cases 3 Cases 2 Cases 4 Cases 3 Cases 3 Cases 2 Cases 61 Cases 1 Family 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 32 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Intellectual disability3454 developmental delaycontractures syndrome Intellectual disability436151 expressive aphasia-facial dysmorphism syndrome Intellectual disability-facial 404440 dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial 370010 dysmorphism-hand anomalies syndrome Intellectual disability-feeding 363611 difficulties-developmental delay-microcephaly syndrome Intellectual disability369847 hyperkinetic movement-truncal ataxia syndrome Intellectual disabilityhypotonia-brachycephaly314575 pyloric stenosis-cryptorchidism syndrome Intellectual disability-obesity397973 prognathism-eye and skin anomalies syndrome Intellectual disability-seizures369837 hypotonia-ophthalmologicskeletal anomalies syndrome Intellectual disability-seizures369950 macrocephaly-obesity syndrome Intellectual disability-severe 391372 speech delay-mild dysmorphism syndrome Intellectual disability363528 strabismus syndrome 981 5 Families 13 Cases 7 Cases 3 Cases 3 Cases 5 Cases 2 Cases 314376 137622 69665 436144 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intractable diarrhea - choanal atresia - eye anomalies Intrahepatic cholestasis of pregnancy Intrauterine growth restrictionshort stature-early adult-onset diabetes syndrome Inverse Klippel-Trénaunay syndrome Isolated anencephaly/exencephaly Isolated anophthalmia 2542 microphthalmia Isolated anorectal 557 malformation Isolated anterior cervical 3387 hypertrichosis Isolated autosomal dominant 199326 hypomagnesemia, Glaudemans type Isolated cloverleaf skull 2343 syndrome 10 Cases 217 1885 120 Cases 2.1 P * 1.0 BP * 90 Cases 306527 Isolated hereditary congenital facial paralysis 8 Families 2345 Isolated Klippel-Feil syndrome 2.0 P * 2345 Isolated Klippel-Feil syndrome 0.6 BP * 718 Isolated Pierre Robin syndrome 5.0 BP * 2924 Isolated polycystic liver disease 1.0 P * Isolated sedoheptulokinase deficiency 100 Cases 53 Cases 3366 Isolated trigonocephaly 5.4 I * 2306 Isotretinoin-like syndrome 1.5 BP * 33 Isolated spina bifida Isovaleric acidemia 2 Cases 18.6 BP * 37 Cases 6.7 BP * 6 Cases 1.0 P * 439254 ITM2B amyloidosis 2 Families 435 Ito hypomelanosis 2307 IVIC syndrome 4 Families 1540 Jackson-Weiss syndrome 200 Cases 2308 Jacobsen syndrome 1873 Jalili syndrome 79139 Japanese encephalitis 313795 Jawad syndrome 209981 IRIDA syndrome 74 Cases 90647 209943 IRVAN syndrome 30 Cases 474 84142 Isaac syndrome 150 Cases 229717 Isolated agammaglobulinemia 21 Cases Isolated ectopia lentis 15 Cases 329324 20 Cases 30 Cases Isolated Dandy-Walker malformation Isolated Dandy-Walker malformation Isolated succinate-CoQ 3208 reductase deficiency 15 Cases 20.0 BP 91396 Isolated cryptophthalmia 823 1000.0 I * 5.3 BP * 15 Cases 34 Cases 3 Cases 1.31 I * 50 Cases 440713 16 Cases 35.0 BP * 88620 Isolated congenital anosmia 4 Cases 7 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families 79143 Isolated congenital anonychia 217 2 Cases Interstitial granulomatous 79099 dermatitis with arthritis 92050 Intestinal epithelial dysplasia 1048 Disease or Group of diseases 250923 Isolated aniridia Internal carotid agenesis 182095 Interstitial lung disease ORPHA Number Jervell and Lange-Nielsen syndrome Jeune syndrome 324999 JMP syndrome 10.85 I * 1.0 BP * 49 Cases 0.65 I * 4 Cases 0.3 P 0.6 BP * 3 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 33 ORPHA Number 2315 140874 1454 397715 2318 2754 2319 Disease or Group of diseases Johanson-Blizzard syndrome Joubert syndrome and related disorders Joubert syndrome with hepatic defect Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with oculorenal defect Joubert syndrome with orofaciodigital defect Number of Estimated published prevalence/incidence cases or (/100,000) families ORPHA Number Disease or Group of diseases 0.4 BP * 2329 Karsch-Neugebauer syndrome 1.1 BP 401996 8 Cases 2 Families 10 Cases Juberg-Hayward syndrome 93972 Juberg-Marsidi syndrome Junctional epidermolysis 79403 bullosa - pyloric atresia Junctional epidermolysis 79405 bullosa inversa Junctional epidermolysis 79404 bullosa, Herlitz type 1941 247794 Juvenile absence epilepsy 16 Cases 100 Cases 9 Cases 0.17 BP 7.5 I * Juvenile cataract - microcornea - renal glucosuria 93672 Juvenile dermatomyositis 12 Cases 248111 Juvenile Huntington disease 0.6 P * 248111 Juvenile Huntington disease 0.04 I * 2028 92 1.5 I * 86834 Juvenile myelomonocytic leukemia 0.1 P * 2801 Juvenile Paget disease 247604 Juvenile rheumatoid factornegative polyarthritis Juvenile rheumatoid factor85435 positive polyarthritis 85408 3.85 I * 4.2 P * Kabuki syndrome Kaler-Garrity-Stern syndrome 478 Kallmann syndrome 2326 Kallmann syndrome - heart disease 33276 Kaposi sarcoma 2328 Kapur-Toriello syndrome KBG syndrome 59 Cases 439218 KCNQ2-related epileptic encephalopathy 480 Kearns-Sayre syndrome 2333 Kenny-Caffey syndrome 11 Families 2.0 P * 65 Cases Keratoderma hereditarium 79395 mutilans with ichthyosis Keratosis follicularis - dwarfism 2339 - cerebral atrophy Keratosis palmaris et plantaris 86919 clinodactyly Ketamine-induced biliary 293807 dilatation Ketoacidosis due to 438075 monocarboxylate transporter-1 deficiency 50 Cases 6 Cases 20 Cases 2 Cases 9 Cases 85202 Keutel syndrome 30 Cases 100 Cases KID syndrome 1052 Cases 482 Kimura disease 300 Cases 2908 Kindler syndrome 250 Cases 114 Cases Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to a 261652 point mutation 90308 Klippel-Trénaunay syndrome 86 Cases 23 Cases 0.007 P * 4.0 P * Koolen-De Vries syndrome due 363965 to a point mutation 4 Cases 99749 Kostmann syndrome 45 Cases 8.0 P * 2351 Kousseff syndrome 5 Cases 4.2 P * Kozlowski-Brown-Hardwick 2352 syndrome 2 Cases 20 Cases Juvenile-onset diabetes 445062 mellitus-central and peripheral neurodegeneration syndrome 2324 2332 96169 Koolen-De Vries syndrome 4 Cases 26137 Juvenile temporal arteritis 2322 300 Cases 96147 11 Cases Juvenile primary lateral sclerosis 85436 Juvenile psoriatic arthritis Kasabach-Merritt syndrome 261494 Kleefstra syndrome 50 Cases 79076 Juvenile polyposis of infancy Juvenile polyposis syndrome 2330 50918 Kikuchi-Fujimoto disease 50 Cases Juvenile hyaline fibromatosis Juvenile idiopathic arthritis 2929 12 Families 477 0.295 I 10 Cases Karyomegalic interstitial nephritis 8 Cases 17 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families 487 Krabbe disease 1.0 P * 487 Krabbe disease 0.7 BP 5 Cases 89838 3.1 P * KRT14-related epidermolysis bullosa simplex 79314 L-2-hydroxyglutaric aciduria 2 Cases 35704 3.75 P * 8 Cases 0.34 I * 4 Cases L-Arginine:glycine amidinotransferase deficiency 440731 L-ferritin deficiency 19 Cases 140 Cases 9 Cases 2 Cases Lacrimoauriculodentodigital 2363 syndrome 20 Cases 501 300 Cases Lafora disease 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 34 ORPHA Number Disease or Group of diseases LAMB2-related infantile-onset nephrotic syndrome Lambert-Eaton myasthenic 43393 syndrome Number of Estimated published prevalence/incidence cases or (/100,000) families 306507 313 Lamellar ichthyosis 14 Cases 0.35 P 0.55 P * Laminopathy type DecaudainVigouroux 9 Cases 2632 Langer mesomelic dysplasia 50 Cases 502 Langer-Giedion syndrome 100 Cases 389 Langerhans cell histiocytosis 1.5 P * 626 Large congenital melanocytic nevus 2.75 P * 633 Laron syndrome 0.3 P * 137871 220465 2375 2004 93940 93941 228227 79406 231556 2789 Laron syndrome with immunodeficiency Laryngeal abductor paralysis intellectual disability Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Late-onset focal dermal elastosis Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa intellectual disability 10 Cases 20 Cases 7.5 BP * 30 Cases 20 Cases 5 Cases 37 Cases 2 Cases 14 Cases Lateral meningocele syndrome 46059 Lathosterolosis 650 4 Cases 125 Cases LCAT deficiency 330015 Lead poisoning 2.3 P * 65 Leber congenital amaurosis 2.5 P 65 Leber congenital amaurosis 2.5 BP 104 Leber hereditary optic neuropathy 4.3 P 99718 Leber plus disease 549 Legionellosis 137605 Legius syndrome Disease or Group of diseases 548 Leprosy 509 Leptospirosis 510 Lesch-Nyhan syndrome 2347 2371 Leigh syndrome 2.8 BP * 507 Leishmaniasis 0.1 P * 507 Leishmaniasis 25.0 I 140936 Lelis syndrome 8 Cases 10.0 I * 2382 Lennox-Gastaut syndrome 15.0 P * 2382 Lennox-Gastaut syndrome 0.1 I * 2658 Lenz-Majewski hyperostotic dwarfism 0.1 I * 0.34 BP * 4 Cases 22 Cases 2 Families 1 Case 3 Cases 4 Cases 2 Cases 2 Cases Lethal Kniest-like dysplasia 2 Cases Lethal Larsen-like syndrome 10 Cases Lethal multiple pterygium syndrome Lethal neonatal spasticity435845 epileptic encephalopathy syndrome Lethal occipital encephalocele293925 skeletal dysplasia syndrome Lethal omphalocele-cleft palate 2736 syndrome Lethal osteosclerotic bone 1832 dysplasia Lethal polymalformative 210144 syndrome, Boissel type Lethal recessive 1423 chondrodysplasia 28 Families 8 Cases 4 Cases 3 Cases 8 Families 8 Cases 4 Cases 0.2 P * 350 Cases Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency 99843 type II Leukocyte adhesion deficiency 99844 type III Leukoencephalopathy 163684 dystonia - motor neuropathy Leukoencephalopathy 83629 metaphyseal chondrodysplasia Leukoencephalopathy with 139444 bilateral anterior temporal lobe cysts 99842 2.2 BP 3.7 I 33108 2968 1.1 I * Number of Estimated published prevalence/incidence cases or (/100,000) families Lethal acantholytic 158687 epidermolysis bullosa Lethal arteriopathy syndrome 314718 due to fibulin-4 deficiency Lethal ataxia with deafness and 1187 optic atrophy Lethal encephalopathy due to 330050 mitochondrial and peroxisomal fission defect Lethal faciocardiomelic 1972 dysplasia Lethal fetal brain malformation-duodenal atresia444069 bilateral renal hypoplasia syndrome Lethal fetal 439897 cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal hemolytic anemia 1046 genital anomalies 99870 Letterer-Siwe disease 0.04 P * 506 137839 Lemierre syndrome ORPHA Number 0.1 P * 10 Cases 17 Cases 2 Cases 4 Cases 29 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 35 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Leukoencephalopathy with 137898 brain stem and spinal cord involvement - high lactate Leukoencephalopathy with 363540 mild cerebellar ataxia and white matter edema Leukoencephalopathy-ataxia137639 hypodontia-hypomyelination syndrome Leukoencephalopathy2386 palmoplantar keratoderma syndrome Leukoencephalopathy314051 thalamus and brainstem anomalies-high lactate Leukonychia totalis 210133 acanthosis-nigricans-like lesions - abnormal hair 48162 Lewis-Sumner syndrome 127 Cases 6 Cases 8 Cases 4 Cases 0.9 P * 220 Cases Li-Fraumeni syndrome 525 Lichen planopilaris 300 Cases 254478 Lichen planus pemphigoides 100 Cases 6.0 P 200 Cases Long chain 3-hydroxyacyl-CoA 5 dehydrogenase deficiency Lower motor neuron syndrome 276435 with late-adult onset 27 Cases 3.0 P * Limbic encephalitis with DPP6 antibodies 200 Cases 140933 Linear atrophoderma of Moulin 30 Cases 228236 Linear focal dermal elastosis 30 Cases 50811 1979 401859 530 Linear nevus sebaceus syndrome LIPE-related familial partial lipodystrophy Lipodystrophy - intellectual disability - deafness Lipodystrophy due to peptidic growth factors deficiency Lipoic acid synthetase deficiency 10.0 BP * 3 Cases 1 Family 3 Cases 300 Cases 69078 Liposarcoma 1.0 I * 401862 Lipoyl transferase 1 deficiency 2 Cases Lisch epithelial corneal dystrophy 36 Cases 98955 0.337 I 1.0 P 20 Cases 10 Cases 5 Cases 33 Cases Locked-in syndrome 52 Families 1.0 BP * 31 Cases Lowry-MacLean syndrome 3 Cases Lowry-Wood syndrome 10 Cases Lung agenesis - heart defect thumb anomalies Lung fibrosis 137631 immunodeficiency - 46,XX gonadal dysgenesis 1120 9 Cases 2 Cases 90283 Lupus erythematosus tumidus 91546 Lyme disease 2 Cases Lipoid proteinosis 2409 1824 4 Cases 10 Cases Localized junctional 251393 epidermolysis bullosa, nonHerlitz type Localized lichen 90398 myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with 90399 monoclonal gammopathy or systemic symptoms 60030 Loeys-Dietz syndrome 220407 Limited systemic sclerosis 435660 93685 Localized Castleman disease 27 Cases 69085 Limb-mammary syndrome 50 Cases 50 Cases 2406 171673 Limbal stem cell deficiency 2 Cases LOC syndrome Liddle syndrome 2 Cases 5 Cases 5 Cases 2 Cases Limb-girdle muscular dystrophy 445110 due to POMK deficiency 15 Cases LMNA-related cardiocutaneous progeria syndrome 80 Cases 97231 Ligneous conjunctivitis 2612 Listeriosis Lichstenstein syndrome 99812 LIG4 syndrome 329341 533 2407 11 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families Lissencephaly due to TUBA1A mutation Lissencephaly type 3 - familial 86821 fetal akinesia sequence Lissencephaly type 3 86822 metacarpal bone dysplasia Lissencephaly with cerebellar 100012 hypoplasia type B Lissencephaly with cerebellar 100013 hypoplasia type C 363618 524 526 Disease or Group of diseases 171680 12 Cases 65285 Lhermitte-Duclos disease 2390 ORPHA Number 250 Cases 21.9 I 538 Lymphangioleiomyomatosis 0.15 P 538 Lymphangioleiomyomatosis 0.0135 I 2415 Lymphatic malformation 12.5 P * Lymphedema - atrial septal 86915 defects - facial changes Lymphedema - cerebral 86914 arteriovenous anomaly Macrocephaly - short stature 2427 paraplegia Macrocephaly-autism 210548 syndrome Macrostomia - preauricular 83619 tags - external ophthalmoplegia 3 Cases 5 Cases 2 Cases 40 Cases 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 36 ORPHA Number Disease or Group of diseases Macular coloboma-cleft palatehallux valgus Maculopapular cutaneous 79457 mastocytosis Number of Estimated published prevalence/incidence cases or (/100,000) families 91494 2 Cases 450.0 BP * 137867 Madras motor neuron disease 200 Cases 163634 Maffucci syndrome 250 Cases 77297 Majeed syndrome 4 Families 87503 Mal de Meleda 1.0 P 420179 Malan overgrowth syndrome 20 Cases 673 Malaria 3.0 P * 673 Malaria 73.0 I Male hypergonadotropic 2234 hypogonadism - intellectual disability - skeletal anomalies 679 35807 2215 168999 293181 3148 168811 35808 35808 Malignant germ cell tumor of ovary Malignant hyperthermia arthrogryposis - torticollis Malignant melanoma of the mucosa Malignant migrating partial seizures of infancy Malignant peripheral nerve sheath tumor Malignant peritoneal mesothelioma Malignant sex cord stromal tumor of ovary Malignant sex cord stromal tumor of ovary 200 Cases 0.08 I * 180242 Malignant tumor of fallopian tubes 398043 Malignant tumor of penis 943 0.26 I * 94 Cases 1.5 P * 1.85 P * 170 Cases 1.075 I * 34 Cases 52417 MALT lymphoma 0.3 I * Mammary-digital-nail syndrome 11 Cases 397941 MAN1B1-CDG 7 Cases Mandibular hypoplasia363649 deafness-progeroid syndrome 4 Cases 40 Cases Mandibuloacral dysplasia Mandibulofacial dysostosis macroblepharon - macrostomia Mandibulofacial dysostosis 443995 with alopecia Mandibulofacial dysostosis79113 microcephaly syndrome 357158 52416 Mantle cell lymphoma 511 Maple syrup urine disease 2461 Marden-Walker syndrome 50 Cases 558 Marfan syndrome 15.0 P 558 Marfan syndrome 25.0 I * Marfanoid habitus - inguinal 314041 hernia - advanced bone age Marinesco-Sjögren syndrome 200 Cases 560 Marshall syndrome 17 Cases 561 Marshall-Smith syndrome 33 Cases 9.0 P * Maternal 14q32.2 254534 hypermethylation syndrome Maternal 14q32.2 254528 microdeletion syndrome 2209 Maternal phenylketonuria 3 Cases 6 Cases 10.0 I * Maternally-inherited 1349 cardiomyopathy and hearing loss Maternally-inherited diabetes 225 and deafness 2470 1 Case 2 Families 0.1 P * 40 Cases Matthew-Wood syndrome 11.0 BP 1.0 BP * 54 Cases 562 McCune-Albright syndrome 2473 McKusick-Kaufman syndrome 90 Cases 59306 McLeod neuroacanthocytosis syndrome 100 Cases 3097 Meacham syndrome 15 Cases 564 Meckel syndrome 70588 Meconium aspiration syndrome 0.55 P * 4.0 BP 2.44 P * 2006 Median cleft lip/mandibule 70 Cases 2699 Median nodule of the upper lip 3 Families 370127 Medich giant platelet syndrome 42 42 Medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase deficiency 3 Cases 6.85 P 12.0 BP * 171851 MEDNIK syndrome 4 Families 2 Cases 1332 Medullary thyroid carcinoma 7.0 P * 4 Cases 1332 Medullary thyroid carcinoma 0.22 I * 616 Medulloblastoma 1.0 P * 616 Medulloblastoma 0.11 I * 60 Cases 3.5 P * 2 Cases 559 1.0 P * 4.0 P * 2457 500 Cases 57782 Mazabraud syndrome 0.13 I * 52417 MALT lymphoma 238744 99826 Marburg hemorrhagic fever Mayer-Rokitansky-Küster3109 Hauser syndrome Mayer-Rokitansky-Küster2578 Hauser syndrome type 2 1.0 I Malonic aciduria Number of Estimated published prevalence/incidence cases or (/100,000) families 411712 Maternal riboflavin deficiency 4 Cases 252212 Malignant triton tumor Disease or Group of diseases 98292 Mastocytosis 2 Cases Malignant atrophic papulosis ORPHA Number 98954 Meesmann corneal dystrophy 250 Cases 0.67 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 37 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Megacystis-microcolon2241 intestinal hypoperistalsis syndrome Megalencephalic 2478 leukoencephalopathy with subcortical cysts Megalencephaly 83473 polymicrogyria - postaxial polydactyly - hydrocephalus Megalencephaly-capillary 60040 malformation-polymicrogyria syndrome 230 Cases 100 Cases 6 Cases 170 Cases 352328 MEGDEL syndrome 20 Cases 85282 MEHMO syndrome 8 Cases 2484 Melnick-Needles syndrome 70 Cases 2485 Melorheostosis 0.09 P * Melorheostosis with 1879 osteopoikilosis 5 Families 401973 MEND syndrome 319547 319558 319552 319563 319600 319595 19 Cases 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 2495 Meningioma 565 Menkes disease 12 Cases 49 Cases 140 Cases ORPHA Number Metaphyseal chondrodysplasia - retinitis pigmentosa Metaphyseal chondrodysplasia, 33067 Jansen type Metaphyseal chondrodysplasia, 166038 Kaitila type Metaphyseal dysplasia 2504 maxillary hypoplasia brachydacty 166035 8 Cases 0.15 I * 0.33 BP * Mesoaxial synostotic 157801 syndactyly with phalangeal reduction Mesomelia-synostoses 2496 syndrome Mesomelic dysplasia, 1836 Kantaputra type 6 Families 5 Cases 5 Families 2499 Metachondromatosis 25 Cases 512 Metachromatic leukodystrophy 0.1 P * 512 Metachromatic leukodystrophy 1.47 BP * 512 Metachromatic leukodystrophy 1.5 I * 1240 Metaphyseal acroscyphodysplasia 4 Cases 1040 Metaphyseal anadysplasia 27 Cases 2 Cases 16 Cases 2 Cases 2 Families Metatropic dysplasia 81 Cases 1923 Methimazole embryofetopathy 40 Cases Methylcobalamin deficiency type cblE Methylcobalamin deficiency 2170 type cblG Methylmalonic acidemia with 26 homocystinuria Methylmalonic acidemia with 79284 homocystinuria type cblF Methylmalonic acidemia with 79282 homocystinuria, type cblC Methylmalonic acidemia with 79283 homocystinuria, type cblD Methylmalonic acidemia with 369955 homocystinuria, type cblJ Methylmalonic acidemia with 369962 homocystinuria, type cblX Methylmalonic aciduria due to 280183 transcobalamin receptor defect 2169 Mevalonic aciduria 79329 MGAT2-CDG 2510 2 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families 2635 29 3 Cases Disease or Group of diseases Micro syndrome Microbrachycephaly - ptosis 2511 cleft lip Microcephalic osteodysplastic 85172 dysplasia, Saul-Wilson type Microcephalic osteodysplastic 2637 primordial dwarfism type II Microcephalic osteodysplastic 2636 primordial dwarfism types I and III Microcephalic primordial 329228 dwarfism due to ZNF335 deficiency Microcephalic primordial 436182 dwarfism-insulin resistance syndrome Microcephaly - albinism - digital 2513 anomalies Microcephaly - brachydactyly 3433 kyphoscoliosis Microcephaly - cardiac defect 2516 lung malsegmentation 27 Cases 33 Cases 500 Cases 15 Cases 500 Cases 17 Cases 2 Cases 18 Cases 5 Cases 30 Cases 4 Cases 203 Cases 2 Cases 4 Cases 150 Cases 30 Cases 7 Cases 2 Cases 2 Cases 3 Cases 3 Cases 2515 Microcephaly - cardiomyopathy 3 Cases 2521 Microcephaly - cleft palate 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 38 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Microcephaly - digital 137653 anomalies - intellectual disability Microcephaly - facio-cardio217026 skeletal syndrome, Hadziselimovic type Microcephaly 2172 glomerulonephritis - marfanoid habitus Microcephaly - intellectual 137658 disability - phalangeal and neurological anomalies Microcephaly - lymphedema 2526 chorioretinopathy Microcephaly - polymicrogyria 171703 corpus callosum agenesis Microcephaly - seizures 2519 intellectual disability - heart disease Microcephaly-capillary 294016 malformation syndrome Microcephaly-cerebellar 329332 hypoplasia-cardiac conduction defect syndrome Microcephaly-complex motor 423894 and sensory axonal neuropathy Microcephaly-short stature423306 intellectual disability-facial dysmorphism syndrome Microcephaly-thin corpus 397951 callosum-intellectual disability syndrome Microcornea - posterior 231736 megalolenticonus - persistent fetal vasculature - coloboma Microcornea-myopic 369970 chorioretinal atrophytelecanthus syndrome Microcytic anemia with liver 83642 iron overload Microduplication Xp11.22217377 p11.23 syndrome Microgastria - limb reduction 2538 defect Microlissencephaly 50810 micromelia 2 Cases 5 Cases 2 Cases 50 Families 4 Cases 2 Cases 10 Cases 4 Cases 3 Cases 2 Cases 4 Cases 8 Cases 14 Cases 3 Cases 12 Cases 16 Cases 2 Cases 3 Cases Microphthalmia - retinitis 251279 pigmentosa - foveoschisis - optic disc drusen Microphthalmia with brain and 139471 digit anomalies Microphthalmia with limb 1106 anomalies Microphthalmia with linear skin 2556 defects syndrome 727 Microscopic polyangiitis Disease or Group of diseases 83463 Microtia 4 Cases 2 Families 35 Families 55 Cases 6.0 I * 1.0 I * Number of Estimated published prevalence/incidence cases or (/100,000) families 15.5 BP Microtia-eye coloboma139450 imperforation of the nasolacrimal duct 1 Family 2290 Microvillus inclusion disease 2557 Mietens syndrome 9 Cases 2558 Mikati-Najjar-Sahli syndrome 5 Cases 169799 Mild hemophilia B 3 Cases 77299 Microphthalmia - brain atrophy 58220 Microscopic colitis ORPHA Number 531 Miller-Dieker syndrome 98919 Miller-Fisher syndrome Minimal pigment oculocutaneous albinism type 1 Mirror polydactyly - vertebral 3004 segmentation - limbs defects MITF-related melanoma and 293822 renal cell carcinoma predisposition syndrome Mitochondrial DNA deletion 352470 syndrome with progressive myopathy Mitochondrial DNA depletion syndrome, encephalomyopathic 1933 form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic 369897 form with variable craniofacial anomalies Mitochondrial DNA depletion 363534 syndrome, hepatocerebrorenal form Mitochondrial DNA depletion 254875 syndrome, myopathic form Mitochondrial hypertrophic 314637 cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial membrane 289560 protein-associated neurodegeneration Mitochondrial myopathy and 2598 sideroblastic anemia Mitochondrial 298 neurogastrointestinal encephalomyopathy Mitochondrial oxidative 2443 phosphorylation disorder due to nuclear DNA anomalies Mitochondrial trifunctional 746 protein deficiency Möbius syndrome - axonal 2560 neuropathy - hypogonadotropic hypogonadism Moderate and severe traumatic 90056 brain injury Moderately severe hemophilia 169796 B 137 Cases 0.6 P * 1.0 BP * 0.1 I * 352734 10 Cases 0.3 P * 30 Families 4 Cases 2 Cases 20 Cases 3 Cases 45 Cases 8 Cases 0.1 P 7 Cases 0.1 P * 9.0 P * 100 Cases 7 Cases 37.8 P * 0.6 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 39 ORPHA Number 570 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 300 Cases Moebius syndrome ORPHA Number Disease or Group of diseases 53271 Muenke syndrome Number of Estimated published prevalence/incidence cases or (/100,000) families 1.8 BP * 52368 Mohr-Tranebjaerg syndrome 91 Cases 587 Muir-Torre syndrome 205 Cases 2563 8 Cases 2576 MULIBREY nanism 140 Cases MOMO syndrome Monoclonal Ig light chain91136 associated Fanconi syndrome Monocytopenia with 228423 susceptibility to infections Mononen-Karnes-Senac 2565 syndrome 100 Cases Müllerian derivatives 1655 lymphangiectasia - polydactyly 3 Cases 22 Cases 93686 Multicentric Castleman disease 100 Cases 5 Cases Multicentric osteolysis371428 nodulosis-arthropathy spectrum Multicentric 139436 reticulohistiocytosis 50 Cases 200 Cases 77301 Monosomy 9q22.3 30 Cases 1598 Monosomy 18p 200 Cases 1851 Multicystic dysplastic kidney 23.26 BP 574 Monosomy 21 50 Cases 3282 Multifocal atrial tachycardia 0.67 BP 48652 Monosomy 22q13 200 Cases 641 Multifocal motor neuropathy 1.5 P 261476 Monosomy Xp21 100 Cases 96061 Mosaic trisomy 8 3.0 I * Mosaic variegated aneuploidy syndrome Motor developmental delay 254516 due to 14q32.2 paternally expressed gene defect 1052 3347 Mounier-Kühn syndrome 2152 Mowat-Wilson syndrome 41 Cases 26 Cases 300 Cases 1.7 BP * Moyamoya angiopathy-short stature-facial dysmorphism280679 hypergonadotropic hypogonadism 2573 401945 Moyamoya disease 9 Cases 251 0.035 I * Moyamoya disease with earlyonset achalasia Multinodular goiter - cystic kidney - polydactyly Multiple congenital anomalies 280633 hypotonia - seizures syndrome Multiple congenital anomalies 254519 due to 14q32.2 maternally expressed gene defect Multiple congenital anomalies300496 hypotonia-seizures syndrome type 2 Multiple endocrine neoplasia 652 type 1 Multiple endocrine neoplasia 653 type 2 2091 9 Cases 79323 MPDU1-CDG 7 Cases 79319 MPI-CDG 20 Cases 263347 MRCS syndrome 7 Cases 100024 Mu-heavy chain disease 35 Cases 200 Cases Multiple epiphyseal dysplasia 3 Cases 10 Cases 26 Cases 5 Cases 3.3 P * 2.9 P * 5.0 P * Multiple epiphyseal dysplasia, 166024 Al-Gazali type Multiple epiphyseal dysplasia, 166011 Beighton type Multiple epiphyseal dysplasia, 166032 with miniepiphyses Multiple epiphyseal dysplasia, 166029 with severe proximal femoral dysplasia 4 Cases 1 Family 2 Cases 3 Cases 575 Muckle-Wells syndrome 576 Mucolipidosis type II 0.84 BP * 577 Mucolipidosis type III 1.0 BP * 423461 Mucolipidosis type III alpha/beta 13.0 P 579 Mucopolysaccharidosis type 1 8.0 P * 579 Mucopolysaccharidosis type 1 0.82 BP 580 Mucopolysaccharidosis type 2 6.7 P * 585 580 Mucopolysaccharidosis type 2 0.68 BP 3237 Multiple synostoses syndrome 217085 Mucopolysaccharidosis type 2, severe form 0.4 BP * 102 Multiple system atrophy 3.5 P 581 Mucopolysaccharidosis type 3 0.87 BP * 102 Multiple system atrophy 1.8 I 583 Mucopolysaccharidosis type 6 0.16 BP * 584 Mucopolysaccharidosis type 7 0.01 P * 29073 Multiple myeloma 11.9 P * 29073 Multiple myeloma 6.0 I Multiple paragangliomas associated with polycythemia Multiple sclerosis - ichthyosis 3151 factor VIII deficiency Multiple self-healing squamous 65748 epithelioma 324299 2 Cases 2 Cases 100 Cases 50 Cases Multiple sulfatase deficiency Multiple system atrophy, 98933 parkinsonian type Multisystemic smooth muscle 404463 dysfunction syndrome 30 Families 2.4 P * 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 40 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Muscle-eye-brain disease with 370997 bilateral multicystic leucodystrophy Muscular atrophy - ataxia 2579 retinitis pigmentosa - diabetes mellitus Muscular dystrophy with 424261 progressive weakness, distal contractures and rigid spine Muscular dystrophy, Selcen 199340 type Muscular hypertrophy 324416 hepatomegaly - polyhydramnios Mutilating palmoplantar 659 keratoderma with periorificial keratotic plaques 2 Cases 10 Cases 3 Cases 12 Cases 7.77 P 589 Myasthenia gravis 0.53 I Mycophenolate mofetil embryopathy 0.59 I * 52688 Myelodysplastic syndrome 1.5 I * Myelofibrosis with myeloid metaplasia Myelofibrosis with myeloid 824 metaplasia MYH7-related late-onset 437572 scapuloperoneal muscular dystrophy 182050 MYH9-related disease 2588 4 Cases 4 Cases 6.7 P 0.1 I * 3 Cases N syndrome 0.035 P * 110 Cases Nager syndrome Nail and teeth abnormalitiesmarginal palmoplantar 423454 keratoderma-oral hyperpigmentation syndrome 2 Cases 224 Neonatal diabetes mellitus 446 Neonatal hemochromatosis 35 Cases Neonatal inflammatory skin 294023 and bowel disease 2 Cases 398127 Neonatal scleroderma 6 Cases 94058 Neovascular glaucoma 106 Cases 99967 Myxoid/round cell liposarcoma 34 Cases 2 Cases 21 Cases 206647 Myotonic dystrophy 0.067 BP 73 Cases 0.3 P * Myoclonus-cerebellar ataxiadeafness syndrome Myopathy due to calsequestrin 88635 and SERCA1 protein overload 245 Neonatal acute respiratory distress due to SP-B deficiency Neonatal antiphospholipid 398097 syndrome Neonatal autoimmune 398109 hemolytic anemia 2.0 BP * 3 Cases 12 Cases 2589 Naegeli-Franceschetti69087 Jadassohn syndrome Nemaline myopathy Neonatal diabetes - congenital hypothyroidism - congenital 79118 glaucoma - hepatic fibrosis polycystic kidneys 1.0 I * 86909 Myoclonic epilepsy of infancy 2608 607 4 Families 398117 Neonatal dermatomyositis 3.0 P * Myhre syndrome 49 Cases 2 Cases 25 Cases 178566 Mycosis fungoides and variants Number of Estimated published prevalence/incidence cases or (/100,000) families Nebulin-related early-onset distal myopathy 217563 Myasthenia gravis 824 Disease or Group of diseases 255229 Navajo neurohepatopathy 399103 589 268249 ORPHA Number 6 Cases 2613 Nail-patella-like renal disease 3 Cases 2615 Nakajo-Nishimura syndrome 30 Cases 627 Nance-Horan syndrome 2073 Narcolepsy-cataplexy 2399 Nasopalpebral lipoma coloboma - telecanthus 50 Families 25.0 P * 30 Cases 1.1 BP * 24.4 P * 654 Nephroblastoma 10.0 BP * 654 Nephroblastoma 0.14 I * 223 Nephrogenic diabetes insipidus 0.15 P * Nephrogenic syndrome of 93606 inappropriate antidiuresis Nephropathy-deafness2668 hyperparathyroidism syndrome Nephrosis - deafness - urinary 2669 tract - digital malformations Nephrotic syndrome-deafness300333 pretibial epidermolysis bullosa syndrome Nestor-Guillermo progeria 280576 syndrome 21 Cases 5 Cases 5 Cases 3 Cases 2 Cases 634 Netherton syndrome 0.5 P * 0.5 BP * 634 Netherton syndrome 2671 Neu-Laxova syndrome 3388 Neural tube defect 635 72 Cases 91.05 BP * Neuroblastoma 11.0 P * 635 Neuroblastoma 5.8 BP * 635 Neuroblastoma 1.26 I 2481 Neurocutaneous melanocytosis Neurodegeneration due to 388639 hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain 385 iron accumulation Neurodegenerative syndrome 217382 due to cerebral folate transport deficiency 1.25 P * 4 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 41 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Neuroectodermal melanolysosomal disease Neuroectodermal-endocrine 2676 syndrome 33445 20 Cases Neurofibromatosis type 1 21.3 P * 636 Neurofibromatosis type 1 33.3 BP 637 Neurofibromatosis type 2 1.7 P * 94093 94093 163746 35705 Neurogenic arthrogryposis multiplex congenita Neuroleptic malignant syndrome Neuroleptic malignant syndrome Neurologic Waardenburg-Shah syndrome Neurometabolic disorder due to serine deficiency 71211 Neuromyelitis optica 139512 165 4.3 BP * 15.0 P * 170.0 I 30 Cases 30 Cases 1.5 P * Neuropathy with hearing impairment 1 Family Neutral lipid storage disease 50 Cases 98908 Neutral lipid storage myopathy 3 Cases Neutrophil immunodeficiency 183707 syndrome 2 Cases 263432 Nevus of Ito 363558 1.17 P * New-onset refractory status epilepticus 19 Cases 77292 Niemann-Pick disease type A 0.25 BP * 77293 Niemann-Pick disease type B 0.4 P * 646 Niemann-Pick disease type C 1.0 P * 647 Nijmegen breakage syndrome 1.0 BP 99825 Nipah virus disease 556 Cases 263665 NK-cell enteropathy 8 Cases Nodular lymphocyte 86893 predominant Hodgkin lymphoma Non-acquired combined 467 pituitary hormone deficiency Non-acquired combined 231720 pituitary hormone deficiency with spine abnormalities Non-acquired isolated growth 631 hormone deficiency Non-epidermolytic 2337 palmoplantar keratoderma Non-eruption of teeth 2972 maxillary hypoplasia - genu valgum Non-functioning pituitary 91349 adenoma Non-functioning pituitary 91349 adenoma 547 Non-Hodgkin lymphoma 329883 Non-hypoproteinemic hypertrophic gastropathy 50 Cases 636 Disease or Group of diseases 357034 Non-hereditary retinoblastoma 4 Cases 157846 Neuroferritinopathy 1143 ORPHA Number 29.0 BP * 11.6 I * 1 Family 363999 Non-immune hydrops fetalis 42.0 BP 90061 Non-infectious posterior uveitis 18.0 P * Non-papillary transitional cell 209989 carcinoma of the bladder Non-progressive cerebellar 314647 ataxia with intellectual disability Non-seminomatous germ cell 363494 tumor of testis Non-spherocytic hemolytic 90031 anemia due to hexokinase deficiency 648 Noonan syndrome 37.0 P * 15 Cases 1.21 I * 17 Families 70.0 BP * Noonan syndrome with 500 multiple lentigines Noonan syndrome-like disorder 2701 with loose anagen hair 649 296 Cases 27 Cases 400 Cases Norrie disease North Carolina macular dystrophy Not NOTCH3-related small 77304 vessel disease of the brain NPHP3-related Meckel-like 3032 syndrome Obesity - colitis hypothyroidism - cardiac 88643 hypertrophy - developmental delay Obesity due to CEP19 397615 deficiency Obesity due to congenital 66628 leptin deficiency 75327 2 Families 2 Cases 10 Cases 2 Cases 15 Cases 30 Cases 217031 Obesity due to MC3R deficiency 198 13 Cases 34 Cases 7 Cases 16 Cases Occipital horn syndrome 20 Cases Occipital pachygyria and 280640 polymicrogyria 3 Cases 2704 0.39 P 100 Cases Ochoa syndrome Ocular albinism with congenital 352740 sensorineural deafness Ocular albinism with late-onset 1000 sensorineural deafness 2.5 P * 4 Cases 1.05 I 0.038 I * Obesity due to pro71526 opiomelanocortin deficiency Obesity due to prohormone 71528 convertase I deficiency 0.12 I 80.025 P * Number of Estimated published prevalence/incidence cases or (/100,000) families 194 Ocular coloboma Ocular motor apraxia, Cogan 1125 type Oculo-palato-cerebral 2714 syndrome 5 Families 7 Cases 8.0 BP * 50 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 42 ORPHA Number Disease or Group of diseases Oculoauriculofrontonasal syndrome Oculocerebrocutaneous 1647 syndrome Oculocerebrofacial syndrome, 2707 Kaufman type Oculocerebrorenal syndrome of 534 Lowe Number of Estimated published prevalence/incidence cases or (/100,000) families 398156 55 Oculocutaneous albinism 352731 Oculocutaneous albinism type 1 Oculocutaneous albinism type 1A Oculocutaneous albinism type 79434 1B 79431 41 Cases 38 Cases 9 Cases 0.2 P 5.9 P 2.5 P ORPHA Number 2745 Opitz G/BBB syndrome 2746 Opsismodysplasia Opsoclonus-myoclonus 1183 syndrome Optic atrophy-intellectual 401777 disability syndrome Optic nerve edema313800 splenomegaly syndrome 2.55 P 79435 Oculocutaneous albinism type 4 1.0 P 370091 Oculocutaneous albinism type 5 1 Family 370097 Oculocutaneous albinism type 6 1 Case 352745 Oculocutaneous albinism type 7 9 Cases 2709 Oculodental syndrome, Rutherfurd type 1 Family 2710 Oculodentodigital dysplasia 243 Cases Oculogastrointestinal muscular dystrophy Oculoosteocutaneous 2713 syndrome 1876 1 Family 3 Cases 99806 Oculootodental syndrome 1 Family 2718 2 Cases Oculotrichodysplasia Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digito69082 palmar syndrome 2721 Optic pathway glioma 15 Cases 21 Cases Ornithine transcarbamylase 664 deficiency Orofaciodigital syndrome type 2750 1 Orofaciodigital syndrome type 2751 2 Orofaciodigital syndrome type 2752 3 Orofaciodigital syndrome type 2753 4 Orofaciodigital syndrome type 2919 5 Orofaciodigital syndrome type 2755 8 Orofaciodigital syndrome type 141007 9 Orofaciodigital syndrome type 434179 14 Ossification anomalies 73230 psychomotor development delay 2764 Osteochondritis dissecans 77295 Odontoleukodystrophy 4 Cases Osteochondrodysplatic nanism 2653 - deafness - retinitis pigmentosa 1811 Odontomicronychial dysplasia 5 Cases 2763 Osteocraniostenosis 2723 Odontotrichomelic syndrome 4 Cases 666 Osteogenesis imperfecta 75382 Oguchi disease 50 Cases 2729 2 Cases Okamoto syndrome 85410 Oligoarticular juvenile arthritis 46484 Oligodendroglial tumor 2920 Oliver syndrome 39041 Omenn syndrome 2733 Omodysplasia 660 Omphalocele 14 Cases 216828 Osteogenesis imperfecta type 5 2 Families 7 Cases Osteopathia striata - cranial sclerosis Osteopenia - myopia - hearing 91133 loss - intellectual disability facial dysmorphism 25 Cases 2781 0.7 I * Oligodontia - cancer 300576 predisposition syndrome 3.0 P * 30 Cases 0.02 I * 6 Cases 3 Cases 0.12 I 16 Cases 1.77 BP 1.2 BP * 3 Cases 16 Cases 29 Cases 4 Cases 20 Cases 10 Cases 2 Families 2 Cases 35.0 P * 30 Cases 11.7 BP * 352540 Oncogenic osteomalacia 400 Cases 300504 Onychocytic matricoma 5 Cases Osteopetrosis 178389 hypogammaglobulinemia Osteopetrosis with renal 2785 tubular acidosis Osteoporosis - oculocutaneous 2786 hypopigmentation syndrome 30 Cases 2 Cases 0.7 BP * 47 Cases 2780 Osteopetrosis 2 Cases 7.5 P * Osteogenesis imperfecta 2773 retinopathy - seizures intellectual disability 216804 Osteogenesis imperfecta type 2 20.5 P * 75378 Oligocone trichromacy 50 Cases 52994 Orbital leiomyoma 1.3 P 79432 Oculocutaneous albinism type 2 Number of Estimated published prevalence/incidence cases or (/100,000) families 300512 Onychomatricoma 2086 1.3 P Disease or Group of diseases 100 Cases 2 Cases 1.0 I * 8 Cases 100 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 43 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 2788 Osteoporosis - pseudoglioma 0.05 P * 668 Osteosarcoma 0.23 I * Osteosclerosis - ichthyosis premature ovarian failure Osteosclerosis-developmental 178377 delay-craniosynostosis syndrome 75325 3 Cases 13 Cases Otodental syndrome 10 Families 669 Otopalatodigital syndrome 30 Cases 1427 Otospondylomegaepiphyseal dysplasia 30 Cases 30.0 P * 99853 Ovarioleukodystrophy 17 Cases Overgrowth - macrocephaly facial dysmorphism Overhydrated hereditary 3203 stomatocytosis 137634 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Paraplegia - brachydactyly cone-shaped epiphysis Paraplegia - intellectual 2824 disability - hyperkeratosis 2823 2791 213500 Ovarian cancer ORPHA Number 6 Families 143 Parathyroid carcinoma 2825 PARC syndrome 6 Cases 0.02 I * 2 Cases Parietal foramina with 251290 cleidocranial dysplasia Paris-Trousseau 851 thrombocytopenia Parkinsonism due to ATP13A2 314632 deficiency Paroxysmal exertion-induced 98811 dyskinesia Paroxysmal extreme pain 46348 disorder 157835 Paroxysmal hemicrania 20 Families 5 Cases Paroxysmal kinesigenic 98809 dyskinesia Paroxysmal nocturnal 447 hemoglobinuria Paroxysmal non-kinesigenic 98810 dyskinesia 8 Cases 50 Cases 4 Cases 50 Cases 4 Families 2.0 P * 0.6 P 36355 P2Y12 defect 14 Cases 2796 Pachydermoperiostosis 204 Cases 2309 Pachyonychia congenita 1000 Cases 1952 Pacman dysplasia 10 Cases 991 PAGOD syndrome 6 Cases 1330 Partial atrioventricular canal 30.0 P * 1993 Pai syndrome 37 Cases 1330 Partial atrioventricular canal 20.0 BP * 4 Cases 1646 Partial chromosome Y deletion 100 Cases 401959 Painful orbital and systemic 300501 neurofibromas-marfanoid habitus syndrome 672 85112 140966 2202 2198 2201 Pallister-Hall syndrome Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantar keratoderma, Nagashima type Palmoplantar keratodermadeafness syndrome Palmoplantar keratodermaesophageal carcinoma syndrome Palmoplantar keratodermaspastic paralysis syndrome 97253 Pancreatic endocrine tumor 5 Cases 20 Cases 10 Families 10 Families 25 Cases 0.21 I * Pancreatic hypoplasia 2255 diabetes - congenital heart disease Pancreatic insufficiency 199337 anemia - hyperostosis 677 4 Cases 60 Cases Pancreatoblastoma Pancytopenia-developmental 401764 delay syndrome Pantothenate kinase-associated 157850 neurodegeneration 678 10 Cases Papillon-Lefèvre syndrome 63455 Paraneoplastic pemphigus 2 Cases 0.15 P * 0.25 P 60 Cases 0.2 P * 0.1 P 79087 Partial acquired lipodystrophy Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Partial deep dermal and full 90076 thickness burns 2805 250 Cases 41.65 P 2 Cases 10.0 P * 50 Cases Partial pancreatic agenesis 94083 Partington syndrome 2 Families 86789 Patella aplasia/hypoplasia 5 Families 706 Patent arterial duct Patent ductus arteriosus 228190 bicuspid aortic valve - hand anomalies Paternal 14q32.2 254531 hypomethylation syndrome Paternal 14q32.2 microdeletion 254525 syndrome Paternal 20q13.2q13.3 261304 microdeletion syndrome Patterson-Stevenson-Fontaine 2439 syndrome PCNA-related progressive 438134 neurodegenerative photosensitivy syndrome PDE4D haploinsufficiency 439822 syndrome 699 Pearson syndrome 50.0 BP * 7 Cases 7 Cases 6 Cases 2 Cases 10 Cases 4 Cases 7 Cases 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 44 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 93682 Pediatric Castleman disease Pediatric hepatocellular 33402 carcinoma 150 Cases 0.15 I * ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 2971 Peroxisomal acyl-CoA oxidase deficiency 40 Cases 2855 Perrault syndrome 61 Cases 263548 Peeling skin syndrome type A 40 Families 178509 Perry syndrome 53 Cases 263553 Peeling skin syndrome type B 30 Families 97341 Persistent placoid maculopathy 5 Cases Peeling skin-leukonuchia-acral 444138 punctate keratoses-cheilitisknuckle pads syndrome 4 Cases 702 Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease, 280210 connatal form Pelizaeus-Merzbacher disease, 280224 transitional form 280219 0.25 P * Persistent polyclonal B-cell lymphocytosis 154 Cases 708 Peters anomaly 60 Cases 709 Peters plus syndrome 300324 2869 Peutz-Jeghers syndrome 0.4 P * 0.03 P * 2869 Peutz-Jeghers syndrome 2.2 BP 42642 PFAPA syndrome 0.03 P * 710 Pfeiffer syndrome 83628 PELVIS syndrome 54 Cases 42775 PHACE syndrome 2839 10 Cases Phakomatosis pigmentokeratotica Phalangeal microgeodic 352636 syndrome Pelvis-shoulder dysplasia 93333 Pelviscapular dysplasia 4 Cases 704 Pemphigus vulgaris 18.0 P * 705 Pendred syndrome 7.0 P * 49 Penile agenesis 313936 PENS syndrome 1335 Pentalogy of Cantrell 2847 Pericardial and diaphragmatic defect 65250 Perineural cyst Peripartum cardiomyopathy Peripheral neuropathy397744 myopathy-hoarseness-hearing loss syndrome Peripheral resistance to thyroid 97927 hormones 716 Phenylketonuria 13 Cases 2880 9 Cases 100 Cases 34 Cases 50 Cases 2 Cases 10.0 BP * 10 Cases 30 Families 2 Cases Pierson syndrome 22 Cases Pigmented paravenous retinochoroidal atrophy 8 Cases 2890 Pili torti - onychodysplasia 1 Family 2892 Pilodental dysplasia - refractive errors 2 Cases 251295 4 Cases 251909 Pineoblastoma 10 Cases 1.0 I * Phosphoenolpyruvate carboxykinase deficiency Phosphoribosylpyrophosphate 3222 synthetase superactivity Pierre Robin syndrome 2888 faciodigital anomaly 2670 4 Cases 2896 0.02 I * 50 Cases Pitt-Hopkins syndrome 221150 Pitt-Hopkins-like syndrome 30.0 BP 300385 Pituitary carcinoma 15 Cases 2897 150 Cases 30 Cases 33.3 BP * 0.38 BP * Placental site trophoblastic 99928 tumor PLCG2-associated antibody 300359 deficiency and immune dysregulation 48 Cases 33.0 P 0.02 I * 3 Families 99969 Pleomorphic liposarcoma 0.05 I * 50251 Pleural mesothelioma 3.1 P * 50251 Pleural mesothelioma 4 Cases 105 Cases 0.04 I * Pityriasis rubra pilaris 439167 Placental insufficiency 2.5 P * Perlman syndrome Permanent congenital 226292 hypothyroidism Permanent neonatal diabetes 99885 mellitus Permanent neonatal diabetes 65288 mellitus - pancreatic and cerebellar agenesis 80 Cases 50.0 I * 168816 Peritoneal cystic mesothelioma 2849 PHAVER syndrome 20 Cases 500 Cases 2874 2876 0.67 BP Periodic fever-infantile 436166 enterocolitis-autoinflammatory syndrome Periodic paralysis with later397750 onset distal motor neuropathy Periodic paralysis with 397755 transient compartment-like syndrome Perioral myoclonia with 139426 absences 563 80 Cases 0.17 P * 64742 Pleuropulmonary blastoma 1.9 I * 0.5 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 45 ORPHA Number Disease or Group of diseases Pleuropulmonary blastoma 284343 family tumor susceptibility syndrome PLIN1-related familial partial 280356 lipodystrophy Number of Estimated published prevalence/incidence cases or (/100,000) families 3 Cases Poland syndrome Poliomyelitis in patients with 330009 immunodeficiencies deemed at risk 767 Polyarteritis nodosa 50.0 P * 50 Cases 33 Cases Polycythemia vera 30.0 P * 729 Polycythemia vera 1.9 I * 2917 Polydactyly-myopia syndrome 1 Family 397937 Polyglucosan body myopathy 11 Cases 10.0 P * 732 Polymyositis 7.1 P * 732 Polymyositis 0.585 I * Polyneuropathy - hearing loss 171848 ataxia - retinitis pigmentosa cataract Polysyndactyly - cardiac 2934 malformation Polyvalvular heart disease 228410 syndrome Pontine tegmental cap 269229 dysplasia Pontocerebellar hypoplasia 2254 type 1 Pontocerebellar hypoplasia 2524 type 2 Pontocerebellar hypoplasia 97249 type 3 Pontocerebellar hypoplasia 166063 type 4 Pontocerebellar hypoplasia 166068 type 5 Pontocerebellar hypoplasia 166073 type 6 Pontocerebellar hypoplasia 284339 type 7 Pontocerebellar hypoplasia 324569 type 8 101330 Porphyria cutanea tarda 3.0 P * 729 Polymalformative genetic 183422 syndrome with increased risk of developing cancer Polymicrogyria due to TUBB2B 300573 mutation Polymicrogyria with optic nerve 250972 hypoplasia Porphyria 101330 Porphyria cutanea tarda 8.0E-4 P * 5 Cases 23 Cases 0.3 P * Porencephaly-microcephaly306547 bilateral congenital cataract syndrome Porokeratotic eccrine ostial and 166286 dermal duct nevus 738 1.1 BP * Polycystic ovaries - urethral 2795 sphincter dysfunction Number of Estimated published prevalence/incidence cases or (/100,000) families Pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia 411493 type 10 294963 Popliteal pterygium syndrome 25 Cases 221046 Poikiloderma with neutropenia 2911 Disease or Group of diseases 369920 0.007 I 54028 Plummer-Vinson syndrome Pneumonia caused by 90066 Pseudomonas aeruginosa infection ORPHA Number 8 Cases 25 Cases 5.25 P 4.0 P * 0.6 I * 79473 Porphyria variegata 0.32 P * 79473 Porphyria variegata 0.008 I * 246 30 Cases Postaxial acrofacial dysostosis Postaxial polydactyly-anterior 420584 pituitary anomalies-facial dysmorphism syndrome Posterior amorphous corneal 98971 dystrophy Posterior column ataxia 88628 retinitis pigmentosa Posterior fusion of lumbosacral 2064 vertebrae - blepharoptosis 112 Cases 11 Families 20 Cases 3 Cases 36 Cases 268810 Posterior meningocele 4 Cases 93110 Posterior urethral valve 2.0 P * 93110 Posterior urethral valve 4.125 BP * 100.0 BP * 279947 Postorgasmic illness syndrome 19 Cases Posttransplant 70568 lymphoproliferative disease 45 Cases 26.2 P * 52022 Potocki-Shaffer syndrome 6 Cases 217067 Pouchitis 19 Cases PPARG-related familial partial 79083 lipodystrophy 739 22 Cases 398069 40 Families 81 Families 3 Families 10 Families 3 Cases 10 Cases 4 Cases 6 Cases Prader-Willi syndrome 23 Cases 22.0 P * 10 Cases 2.8 BP * Prader-Willi syndrome due to point mutation 6 Cases 398073 Prader-Willi-like syndrome 117 Cases Prader-Willi-like syndrome due to point mutation Pre-Descemet corneal 293462 dystrophy 398079 275555 Preeclampsia 4 Cases 5 Cases 45.0 P * Premature aging appearance276432 developmental delay-cardiac arrhythmia syndrome Pretibial dystrophic 79410 epidermolysis bullosa 8 Cases 40 Families 186 Primary biliary cirrhosis 21.05 P 186 Primary biliary cirrhosis 3.0 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 46 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 169464 Primary CD59 deficiency 244 Primary ciliary dyskinesia Primary ciliary dyskinesia retinitis pigmentosa Primary congenital 226295 hypothyroidism Primary cutaneous CD30+ T-cell 541 lymphoproliferative disease 6 Cases 5.0 BP * 247522 542 Primary cutaneous lymphoma Primary cutaneous T-cell 171901 lymphoma Primary cutaneous T-cell 171901 lymphoma 20 Cases 37.5 P * 0.18 I * 0.75 I * 24.0 P * 5.2 I * 48686 Primary effusion lymphoma 200 Cases 90026 Primary erythermalgia 30 Families Primary hepatic neuroendocrine carcinoma Primary hypergonadotropic 2232 hypogonadism - partial alopecia 100085 93598 Primary hyperoxaluria type 1 0.2 I 7 Cases 0.2 P * 93599 Primary hyperoxaluria type 2 10 Cases 93600 Primary hyperoxaluria type 3 50 Cases 30924 431166 90023 75391 Primary hypomagnesemia with secondary hypocalcemia Primary immunodeficiency due to STAT2 deficiency Primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 100 Cases 7 Cases 4 Cases 4 Cases 35689 Primary lateral sclerosis 1.5 P * 77240 Primary lymphedema 16.7 P * Primary membranoproliferative glomerulonephritis Primary microcephaly-epilepsy306558 permanent neonatal diabetes syndrome Primary microcephaly-mild 391408 intellectual disability-youngonset diabetes syndrome 54370 189439 Primary pigmented nodular adrenocortical disease 95432 Primary progressive aphasia 314566 3 Cases 3 Cases 171 171 390 Cases Primary sclerosing cholangitis Primary sclerosing cholangitis PRKAR1B-related 412066 neurodegenerative dementia with intermediate filaments Number of Estimated published prevalence/incidence cases or (/100,000) families Progeria - short stature pigmented nevi Progeroid and marfanoid 300382 aspect-lipodystrophy syndrome Progeroid features435953 hepatocellular carcinoma predisposition syndrome Progressive bifocal 75373 chorioretinal atrophy Progressive cavitating 139447 leukoencephalopathy Progressive cerebello-cerebral 247198 atrophy Progressive demyelinating 217396 neuropathy with bilateral striatal necrosis Progressive encephalopathy 431361 with leukodystrophy due to DECR deficiency Progressive external 352447 ophthalmoplegia - myopathy emaciation Progressive myoclonic epilepsy 263516 type 3 Progressive myoclonic epilepsy 402082 type 5 Progressive myoclonic epilepsy 280620 type 6 Progressive myoclonic epilepsy 435438 type 7 Progressive myoclonic epilepsy 424027 type 8 Progressive myoclonic epilepsy 352596 with dystonia 2959 10 Cases 7 Cases 3 Cases 2 Families 19 Cases 7 Cases 4 Cases 2 Cases 6 Cases 3 Cases 3 Cases 12 Cases 13 Cases 4 Cases 5 Cases 100070 Progressive non-fluent aphasia 2.5 P * 100070 Progressive non-fluent aphasia 0.7 I * Progressive non-infectious anterior vertebral fusion Progressive retinal dystrophy 352718 due to retinol transport defect Progressive sensorineural 228012 hearing loss - hypertrophic cardiomyopathy 7.0 P 16 Cases 90 Cases 4 Cases 4 Families 683 Progressive supranuclear palsy 6.0 P 683 Progressive supranuclear palsy 0.65 I Progressive supranuclear palsy 240103 - corticobasal syndrome Progressive supranuclear palsy 240112 - progressive non fluent aphasia 0.04 P * Primary progressive apraxia of speech Disease or Group of diseases 2062 16.0 P * 238606 Primary orthostatic tremor ORPHA Number 742 0.6 P * 10 Cases 90 Cases Prolidase deficiency 8.1 P 35 Propionic acidemia 0.2 P * 0.65 I 35 Propionic acidemia 1.5 I 12 Cases Proximal 16p11.2 microdeletion syndrome Proximal myopathy with 401768 extrapyramidal signs 261197 20.0 P * 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 47 ORPHA Number 606 70 70 83330 83418 83419 83420 Disease or Group of diseases Proximal myotonic myopathy Proximal spinal muscular atrophy Proximal spinal muscular atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Number of Estimated published prevalence/incidence cases or (/100,000) families 1.0 P * 2.6 I * 0.26 I * 1.23 I * 1.1 I * 0.32 I * 52530 Pseudo-von Willebrand disease 60 Cases 85174 Pseudodiastrophic dysplasia 10 Cases 26790 Pseudomyxoma peritonei 2985 Pseudoprogeria syndrome 758 Pseudoxanthoma elasticum 436274 280794 88618 2988 2999 238766 228396 182090 275803 275798 2038 99050 Pseudoxanthoma elasticum-like skin manifestations with retinis pigmentosa Pseudoxanthomatous diffuse cutaneous mastocytosis Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Pterygium colli - intellectual disability - digital anomalies Ptosis - strabismus - ectopic pupils Ptosis - syndactyly - learning difficulties Ptosis - upper ocular movement limitation - absence of lacrimal punctum Pulmonary arterial hypertension Pulmonary arterial hypertension associated with congenital heart disease Pulmonary arterial hypertension associated with connective tissue disease Pulmonary arteriovenous fistula Pulmonary artery coming from the aorta 64741 Pulmonary blastoma Disease or Group of diseases Pulmonary capillary hemangiomatosis Pulmonary fibrosis - hepatic 210136 hyperplasia - bone marrow hypoplasia Pulmonary fungal infections in 217080 patients deemed at risk Pulmonary venoocclusive 31837 disease Punctate palmoplantar 79501 keratoderma type 1 PURA-related severe neonatal hypotonia-seizures438216 encephalopathy syndrome due to a point mutation Pure hair and nail ectodermal 69084 dysplasia Purine nucleoside 760 phosphorylase deficiency Number of Estimated published prevalence/incidence cases or (/100,000) families 199241 20.0 BP * Pseudohypoaldosteronism type 756 1 Pseudohypoaldosteronism type 757 2 Pseudohypoaldosteronism type 300525 2D Pseudohypoaldosteronism type 300530 2E ORPHA Number 70 Cases 100 Cases 4 Cases 22.0 P * 0.015 I * 35 Families 24 Cases 20 Cases 70 Cases 80 Families 763 Pycnodysostosis 24 Cases 3003 Pyknoachondrogenesis 5 Cases 3005 Pyle disease 30 Cases 17 Cases 0.1 I 2 Cases 2.5 P * 13 Cases 0.13 P Pyogenic arthritis - pyoderma 69126 gangrenosum - acne Pyogenic bacterial infections 183713 due to MyD88 deficiency 34 Cases 24 Cases 3006 Pyridoxine-dependent epilepsy 0.2 BP * 3008 Pyruvate carboxylase deficiency 0.4 BP * Pyruvate carboxylase deficiency, benign type Pyruvate dehydrogenase E3 2394 deficiency 353320 10 Cases 3 Cases 3010 1 Family 5 Cases 3 Cases 3.3 P * 0.57 P * 0.25 P * 2.5 I 200 Cases 350 Cases 20 Cases 3 Cases Qazi-Markouizos syndrome 70475 Radiation proctitis 2 Cases 10 Cases 35.0 P * Radio-ulnar synostosis 71289 amegakaryocytic thrombocytopenia 20 Cases 1051 Ramos-Arroyo syndrome 6 Cases 3021 RAPADILINO syndrome 20 Cases Rapid-onset childhood obesity hypothalamic dysfunction hypoventilation - autonomic dysregulation syndrome Rapid-onset dystonia71517 parkinsonism 293987 48 Cases 100 Cases 217074 Rare carcinoma of pancreas 3.5 P 217074 Rare carcinoma of pancreas 3.9 I Rare epithelial tumor of 63443 stomach 18.6 I * 182114 Rare urogenital tumor 0.13 I * RARS-related autosomal 438114 recessive hypomyelinating leukodystrophy 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 48 ORPHA Number 268114 1929 1115 79409 139380 280384 Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families RAS-associated autoimmune leukoproliferative disease Rasmussen subacute encephalitis Recessive aplasia cutis congenita of limbs Recessive dystrophic epidermolysis bullosa inversa Recessive hereditary methemoglobinemia type 2 Recessive intellectual disability - motor dysfunction - multiple joint contractures 20 Cases 100 Cases 6 Cases 100 Cases 100 Cases 12 Cases 461 Recessive X-linked ichthyosis 16.6 P * 461 Recessive X-linked ichthyosis 15.0 I * 64740 Recurrent acute pancreatitis 10.0 P * Recurrent hepatitis C virus 90052 induced liver disease in liver transplant recipients Recurrent infections 251523 inflammatory syndrome due to zinc metabolism disorder Refsum disease Disease or Group of diseases 791 Retinitis pigmentosa Number of Estimated published prevalence/incidence cases or (/100,000) families 26.7 P Retinitis pigmentosa 3085 intellectual disability - deafness - hypogenitalism Retinitis pigmentosa-juvenile 436245 cataract-short statureintellectual disability syndrome 2 Families 3 Cases 790 Retinoblastoma 6.0 BP 790 Retinoblastoma 0.05 I * 3087 Retinohepatoendocrinologic syndrome 778 Rett syndrome 4.0 P * 778 Rett syndrome 5.0 BP * 7 Cases Reunion Island's Larsen 294049 syndrome 3088 7.0 P * 30 Cases 3 Cases Revesz syndrome 244310 RFT1-CDG 6 Cases 69077 Rhabdoid tumor 5 Cases 97239 Reducing body myopathy 773 ORPHA Number 4 Families 0.1 P * 500 Cases 780 Rhabdomyosarcoma 0.59 I * 3099 Rheumatic fever 5.0 I * 177 Rhizomelic chondrodysplasia punctata 1.0 P * 83450 Regional odontodysplasia 140 Cases 59315 Rhombencephalosynapsis 50 Cases 98961 Reis-Bücklers corneal dystrophy 81 Cases 140976 RHYNS syndrome 4 Cases 728 Relapsing polychondritis 0.35 I 1848 Renal agenesis, bilateral 1.7 BP * 93100 Renal agenesis, unilateral 50.0 BP 217071 Renal cell carcinoma 42.0 P * 1475 180 Cases Renal coloboma syndrome 93108 Renal dysplasia Riboflavin transporter deficiency Ribose-5-P isomerase 440706 deficiency Richieri Costa-Pereira 3102 syndrome 97229 43.5 BP * 5 Cases 293848 Right temporal lobar atrophy 3242 Renpenning syndrome 64 Cases 217335 RIN2 syndrome Resistance to thyrotropin99832 releasing hormone syndrome 2 Cases 363203 Ring chromosome 1662 30 Cases 178307 Reticulate acropigmentation of Kitamura 75326 Retinal arterial tortuosity Retinal degeneration 1574 nanophthalmos - glaucoma Retinal dystrophy with inner 397758 retinal dysfunction and ganglion cell anomalies Retinal ischemic syndrome digestive tract small vessel 3018 hyalinosis - diffuse cerebral calcifications 33 Cases 800 Cases 420741 RIDDLE syndrome Renier-Gabreels-Jasper syndrome 33355 Reticular dysgenesis 1 Case 83312 Rickettsialpox 93975 Restrictive dermopathy 80 Cases 0.03 I * 130 Cases 1437 2 Cases 200 Cases 3 Cases 2.0 BP Ring chromosome 1 34 Cases 96173 Ring chromosome 9 31 Cases 1438 Ring chromosome 10 16 Cases 1440 Ring chromosome 14 50 Cases 100 Cases 1441 Ring chromosome 17 14 Cases 7 Cases 1442 Ring chromosome 18 70 Cases 1444 Ring chromosome 20 50 Cases 14 Cases 3 Cases 91481 Ring dermoid of cornea 30 Cases 3103 150 Cases Roberts syndrome 97360 Robinow syndrome 3105 200 Cases Robinow-like syndrome 2 Cases Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 49 Without specification, published figures are worldwide. An asterisk * indicates European data. P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 353298 Roifman syndrome 101016 Romano-Ward syndrome 7 Cases 40.0 P * 158014 Rosaï-Dorfman disease 2909 Rothmund-Thomson syndrome Rothmund-Thomson syndrome 221008 type 1 Rothmund-Thomson syndrome 221016 type 2 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 801 Scleroderma 42.0 P 801 Scleroderma 1.41 I 1000 Cases 167635 Scleromyxedema 300 Cases 300 Cases Scleromyxedema without 90400 monoclonal gammopathy 15 Cases 100 Cases 806 4 Cases Scott syndrome 200 Cases 158029 Sea-blue histiocytosis 60 Cases Rotor syndrome 50 Cases Seborrhea-like dermatitis with 168606 psoriasiform elements 44 Cases 83616 Rubella panencephalitis 20 Cases 3111 783 Rubinstein-Taybi syndrome 0.6 BP * Sacral agenesis-abnormal ossification of the vertebral 397927 bodies-persistent notochordal canal syndrome 794 Saethre-Chotzen syndrome 3128 3.0 BP * Sakati-Nyhan syndrome 281122 Self-healing collodion baby 5 Cases Sensorineural deafness with 217622 dilated cardiomyopathy Sensorineural hearing loss 66633 early graying - essential tremor 10 Cases 370938 Salt-and-pepper syndrome 3 Cases Sandhoff disease 0.67 BP * 79269 Sanfilippo syndrome type A 0.5 P * 79269 Sanfilippo syndrome type A 1.4 BP 79270 Sanfilippo syndrome type B 0.09 P * Sarcoidosis 12.5 P 3129 Sarcosinemia 2.0 BP 3132 Say-Barber-Miller syndrome 2 Cases 1003 Scalp defects - postaxial polydactyly 2 Cases 2036 3 Cases 30 Cases Scalp-ear-nipple syndrome Scapuloperoneal spinal 431255 muscular atrophy 3134 SCARF syndrome 90080 Scarring in glaucoma filtration surgical procedures 2353 Schilbach-Rott syndrome 22 Cases 2 Cases 22.0 P * 18 Cases Schimke immuno-osseous 1830 dysplasia 71 Cases 798 46 Cases Schinzel-Giedion syndrome 37748 Schnitzler syndrome 150 Cases 98967 Schnyder corneal dystrophy 115 Cases Schöpf-Schulz-Passarge syndrome 25 Cases 800 Schwartz-Jampel syndrome 100 Cases 185 Scimitar syndrome 50944 2.0 BP * 32 Cases 10 Cases 3 Cases 25 Cases 2 Families 3 Cases 90051 Sepsis in premature infants 32.0 P * 3157 10.0 BP * Septo-optic dysplasia spectrum 139466 SERKAL syndrome 797 370052 SCALP syndrome Segmental odontomaxillary dysplasia Segmental progressive 314662 overgrowth syndrome with fibroadipose hyperplasia Seizures - intellectual disability 79156 due to hydroxylysinuria 60 Cases 140969 Saldino-Mainzer syndrome 796 50 Cases Seckel syndrome 67039 4 Cases 300493 Sagliker syndrome 808 Severe achondroplasia 85165 developmental delay acanthosis nigricans Severe autosomal recessive 438207 macrothrombocytopenia Severe combined 183660 immunodeficiency Severe combined 277 immunodeficiency due to adenosine deaminase deficiency Severe combined 277 immunodeficiency due to adenosine deaminase deficiency Severe combined 357237 immunodeficiency due to CARD11 deficiency Severe combined 228003 immunodeficiency due to CORO1A deficiency Severe combined 420573 immunodeficiency due to CTPS1 deficiency Severe combined 397787 immunodeficiency due to IKK2 deficiency Severe combined 280142 immunodeficiency due to LCK deficiency Severe congenital hypochromic 300298 anemia with ringed sideroblasts 3 Cases 4 Cases 2 Cases 1.65 BP * 0.2 P * 0.3 BP * 2 Cases 6 Cases 8 Cases 4 Cases 4 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 50 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 42738 Severe congenital neutropenia 0.07 P 42738 Severe congenital neutropenia 0.4 BP * Severe dermatitis-multiple 369992 allergies-metabolic wasting syndrome Severe early-onset axonal 228374 neuropathy due to NEFL deficiency Severe early-onset obesity329249 insulin resistance syndrome due to SH2B1 deficiency Severe feeding difficulties 352577 failure to thrive - microcephaly due to ASXL3 deficiency 3 Cases 4 Cases 13 Cases 4 Cases 2.8 P * 169793 Severe hemophilia B 0.8 P * 280763 94066 438178 436141 363686 397933 404473 391307 324307 369939 314655 397593 Disease or Group of diseases Severe neonatal-onset 209370 encephalopathy with microcephaly Severe neurodegenerative 363400 syndrome with lipodystrophy Severe X-linked intellectual 3078 disability, Gustavson type Severe X-linked mitochondrial 238329 encephalomyopathy Sex cord-stromal tumor of 363489 testis 104008 Short bowel syndrome 169802 Severe hemophilia A Severe intellectual disability and progressive spastic paraplegia Severe intellectual disabilityepilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disabilityepilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency 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 troubles-facial dysmorphism syndrome Severe lateral tibial bowing with short stature Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe neonatal hypotoniaseizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ORPHA Number 15 Cases 2 Cases 3 Cases 6 Cases 4 Cases 3 Cases 4 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families 30 Cases 6 Cases 7 Cases 2 Cases 0.02 I * 3.4 P * Short fifth metacarpals - insulin 66518 resistance Short rib-polydactyly 93269 syndrome, Majewski type Short stature - intellectual 2649 disability - eye anomalies - cleft lip/palate Short stature - pituitary and 85442 cerebellar defects - small sella turcica Short stature - webbed neck 2865 heart disease Short stature due to GHSR 314811 deficiency Short stature due to growth 629 hormone qualitative anomaly 2867 6 Cases 34 Cases 3 Cases 5 Families 4 Cases 8 Cases 3 Cases 2 Cases Short stature, Brussels type Short stature-advanced bone 435804 age-early onset osteoarthritis syndrome Short stature-auditory canal 397623 atresia-mandibular hypoplasiaskeletal anomalies syndrome Short stature-onychodysplasia314394 facial dysmorphismhypotrichosis syndrome Short stature-optic atrophy391677 Pelger-Huët anomaly syndrome 3163 3 Families 4 Cases 14 Cases 34 Cases 32 Cases SHORT syndrome Short tarsus - absence of lower eyelashes Short ulna - dysmorphism 357175 hypotonia - intellectual disability 2832 3 Cases 2 Cases 2462 7 Cases 811 811 7 Cases 5 Cases 11 Cases 4 Cases 60 Cases Shprintzen-Goldberg syndrome Shwachman-Diamond syndrome Shwachman-Diamond syndrome 309294 Sialidosis 232 Sickle cell anemia 3167 Siegler-Brewer-Carey syndrome 71276 Silent sinus syndrome 0.28 P 0.5 BP 0.05 BP * 15.0 P * 2 Cases 98 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 51 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 3168 Sillence syndrome 5 Cases 813 Silver-Russell syndrome 0.8 BP * 813 Silver-Russell syndrome 15.5 I * ORPHA Number Disease or Group of diseases Spastic tetraplegia - retinitis 3011 pigmentosa - intellectual disability Spasticity - intellectual 3175 disability - X-linked epilepsy Spasticity-ataxia-gait anomalies 401866 syndrome Spectrin-associated autosomal 352403 recessive cerebellar ataxia Silver-Russell syndrome due to 397590 a point mutation Simpson-Golabi-Behmel 373 syndrome Simpson-Golabi-Behmel 79022 syndrome type 2 250 Cases 4 Cases 99865 Spermatocytic seminoma 85191 Singleton-Merten dysplasia 10 Cases Sinoatrial node dysfunction and 324321 deafness Spigelian hernia-cryptorchidism 314432 syndrome 8 Cases 90058 Spinal cord injury 8 Cases 3169 Sirenomelia 0.01 P 3169 Sirenomelia 0.98 BP 2882 Sitosterolemia 100 Cases Skeletal dysplasia - intellectual disability Skin fragility-woolly hair293165 palmoplantar keratoderma syndrome 1436 2 Families 7 Cases 238459 SLC35A1-CDG 356961 SLC35A2-CDG 70573 Small cell lung cancer 818 Smith-Lemli-Opitz syndrome 819 Smith-Magenis syndrome 820 Sneddon syndrome 3394 Soft tissue sarcoma 97230 Solar urticaria 209964 Solitary rectal ulcer syndrome 97283 Somatostatinoma 821 79132 2818 2820 329475 2826 Sotos syndrome 99013 Spastic paraplegia type 7 15 Cases 32.0 P * Spinal muscular atrophy 73245 Dandy-Walker malformation cataracts Spinal muscular atrophy with 404521 respiratory distress type 2 2 Cases 1 Case 98755 Spinocerebellar ataxia type 1 1.5 P 98756 Spinocerebellar ataxia type 2 1.5 P 98757 Spinocerebellar ataxia type 3 1.5 P 51 Cases 98762 Spinocerebellar ataxia type 12 40 Families 98768 Spinocerebellar ataxia type 13 20 Cases 98763 Spinocerebellar ataxia type 14 20 Families 98759 Spinocerebellar ataxia type 17 100 Families 98771 Spinocerebellar ataxia type 18 26 Cases 50 Cases 8 Cases 23.7 P * 36.0 P * 1.0 I * 0.0025 I * 7.1 BP 98772 Spinocerebellar ataxia type 19/22 12 Cases 101110 Spinocerebellar ataxia type 20 20 Cases 98773 Spinocerebellar ataxia type 21 20 Cases 101108 Spinocerebellar ataxia type 23 4 Families 101111 Spinocerebellar ataxia type 25 10 Cases 101112 Spinocerebellar ataxia type 26 1 Family 98764 Spinocerebellar ataxia type 27 30 Cases 208513 Spinocerebellar ataxia type 29 50 Cases 4 Cases 211017 Spinocerebellar ataxia type 30 6 Cases 2 Families 217012 Spinocerebellar ataxia type 31 30 Families 276183 Spinocerebellar ataxia type 32 1 Family 4 Cases 1 Family 2 Cases 100 Cases 4.0 P * 0.03 I * 98767 Spinocerebellar ataxia type 11 0.4 I * 99015 Spastic paraplegia type 2 2 Families 4 Cases 4.0 P Sparse hair - short stature - skin anomalies Spastic paraplegia - glaucoma intellectual disability Spastic paraplegia - nephritis deafness Spastic paraplegia - Paget disease of bone Spastic paraplegia - precocious puberty 3 Cases 3 Families 3.7 BP * Snowflake vitreoretinal degeneration Sodium channelopathy-related 306577 small fiber neuropathy 6 Cases 98766 Spinocerebellar ataxia type 5 11 Families 91496 2 Cases 1 Case 11.2 P * Smith-Fineman-Myers 93974 syndrome Number of Estimated published prevalence/incidence cases or (/100,000) families Spinocerebellar ataxia type 34 25 Cases 276193 Spinocerebellar ataxia type 35 1955 3 Families 276198 Spinocerebellar ataxia type 36 90 Cases 363710 Spinocerebellar ataxia type 37 9 Cases 423296 Spinocerebellar ataxia type 38 4 Families 423275 Spinocerebellar ataxia type 40 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 52 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 71271 Split hand - split foot - deafness Split hand-split foot 2440 malformation Spondylo-megaepiphyseal228387 metaphyseal dysplasia 3275 22 Cases 5.4 BP * 12 Cases 24 Cases Spondylocarpotarsal synostosis Spondylocostal dysostosis 94095 anal and genitourinary malformations Spondylocostal dysostosis 329252 hypospadias - intellectual disability 1855 168451 168443 93346 171866 168448 168454 370015 156728 93356 93282 93352 94068 163665 163654 93283 163668 263482 163649 163662 254 4 Cases 2 Cases 36 Cases Spondyloenchondrodysplasia Spondyloepimetaphyseal dysplasia - abnormal dentition Spondyloepimetaphyseal dysplasia - hypotrichosis Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Geneviève type Spondyloepimetaphyseal dysplasia, Isidor type Spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia, Shohat type Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Nishimura type Spondyloepiphyseal dysplasia, Reardon type Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia 168552 - bowed forearms - facial dysmorphism 2 Cases 5 Cases ORPHA Number Disease or Group of diseases Spondylometaphyseal dysplasia - cone-rod dystrophy Spondylometaphyseal 168555 dysplasia, A4 type Spondylometaphyseal 93315 dysplasia, 'corner fracture' type Spondylometaphyseal 370019 dysplasia, Czarny-Ratajczak type Spondylometaphyseal 168544 dysplasia, Golden type Spondylometaphyseal 93316 dysplasia, Schmidt type Spondylometaphyseal 93317 dysplasia, Sedaghatian type Spontaneous periodic 29822 hypothermia Sporadic adult-onset ataxia of 247234 unknown etiology 85167 826 30 Cases 3 Cases 3 Cases 2 Cases 2 Cases 1 Family 14 Cases 3 Cases 83484 St. Louis encephalitis 30 Cases 2 Cases 3 Cases 7 Cases 9 Cases 50 Cases 7.6 P * 55 Cases 5.2 I 49.0 P * 8.7 I 0.57 I * 55.0 I 1 Case 0.38 I * Stapes ankylosis with broad thumbs and toes 827 Stargardt disease 273 Steinert myotonic dystrophy 6 Families 10.0 P * 12.5 P Sterile multifocal osteomyelitis 210115 with periostitis and pustulosis Stern-Lubinsky-Durrie 3194 syndrome 4 Cases 2017 1 Family Steroid dehydrogenase 3196 deficiency - dental anomalies 4 Cases 2 Cases 370927 SSR4-CDG 140917 1.0 BP * 18 Cases Sporotrichosis Squamous cell carcinoma of 99977 esophagus Squamous cell carcinoma of 67037 head and neck Squamous cell carcinoma of 67037 head and neck Squamous cell carcinoma of 398058 penis Squamous cell carcinoma of 418959 stomach 17 Cases 4 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families Sternal cleft 36426 Stevens-Johnson syndrome 10 Cases 7 Cases 2.0 BP * 1 Family 0.36 I * 828 Stickler syndrome 0.5 BP * 10 Cases 3198 Stiff person syndrome and related disorders 0.1 P * 4 Cases 3199 Stimmler syndrome 2 Cases 1 Family 425120 STING-associated vasculopathy with onset in infancy 9 Cases 3200 Stoll-Alembik-Finck syndrome 2 Cases 3204 Stormorken-Sjaastad-Langslet syndrome 6 Cases 1.0 BP * 2 Cases 137599 Stromal keratitis 370921 STT3A-CDG 16.0 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 53 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 370924 STT3B-CDG 3205 Sturge-Weber syndrome 1 Case 3.5 BP * 166277 Suarez-Stickler syndrome 200 Cases Subepithelial mucinous corneal dystrophy Succinyl-CoA:3-ketoacid CoA 832 transferase deficiency Sudden infant death 168593 dysgenesis of the testes 98959 33 Cases Summitt syndrome 57145 SUNCT syndrome 455 1 Family 46485 Superficial pemphigus 1.2 P * 141096 Supernumerary nostril 32 Cases 3193 Supravalvular aortic stenosis 13.3 P * 3193 Supravalvular aortic stenosis 4.0 BP * 391351 SURF1-related Charcot-MarieTooth disease type 4 3 Cases 838 Susac syndrome 304 Cases 3243 Sweet syndrome 100 Cases 1314 Symmetrical thalamic calcifications 29 Cases Symphalangism with multiple anomalies of hands and feet Syndactyly - camptodactyly and 357332 clinodactyly of fifth fingers bifid toes Syndactyly - telecanthus 140952 anogenital and renal malformations 6 Cases 6 Cases 25.0 BP * 4 Cases 93406 Syndactyly type 5 10 Cases 84064 Syndromic diarrhea 44 Cases Syndromic microphthalmia type 5 Syndromic multisystem 228426 autoimmune disease due to Itch deficiency 178364 3262 Syngnathia multiple anomalies Systemic mastocytosis 3.75 P 2467 Systemic mastocytosis 0.9 I * 158 Systemic primary carnitine deficiency 85414 8.4 P * 150 Cases 3.2 BP * 15.4 P * 5.0 P * 2 Cases 0.4 I * 3287 Takayasu arteritis 0.6 P * 3287 Takayasu arteritis 0.19 I * Tall stature - scoliosis 329191 macrodactyly of the great toes Tall stature-intellectual 404443 disability-facial dysmorphism syndrome Talo-patello-scaphoid 50809 osteolysis 2 Families 13 Cases 2 Cases 31150 Tangier disease 100 Cases Tarsal-carpal coalition syndrome Taurodontia - absent teeth 2731 sparse hair 845 26 Cases 93405 Syndactyly type 4 Syndromic X-linked intellectual 85274 disability 7 Syndromic X-linked intellectual 85279 disability due to JARID1C mutation 2467 300 Cases 1412 0.6 P * 3246 281090 Syndromic X-linked ichthyosis 188 Systemic capillary leak syndrome Systemic-onset juvenile idiopathic arthritis T-cell immunodeficiency with 324294 epidermodysplasia verruciformis T-cell large granular 86872 lymphocyte leukemia 300 Cases 93402 Syndactyly type 1 Syringomyelia 3 Cases 247245 Superficial siderosis 79098 Sympathetic ophthalmia 3280 90291 Systemic sclerosis 20 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families Syringocystadenoma papilliferum 21 Cases 6.7 P * Superficial epidermolytic ichthyosis Disease or Group of diseases 840 3 Cases 48377 Subcorneal pustular dermatosis 3210 ORPHA Number 397959 Tay-Sachs disease Teebi-Shaltout syndrome 2 Cases 3291 Temperature-sensitive 352737 oculocutaneous albinism type 1 10 Cases 284227 TEMPI syndrome 10 Cases 420561 Temple-Baraitser syndrome 7 Cases Temtamy preaxial 363417 brachydactyly syndrome 18 Cases 10 Cases Terminal osseous dysplasia 88630 pigmentary defects Testicular seminomatous germ 842 cell tumor 3303 884 9 10 Families 2 Cases 0.28 BP 2 Cases 1777 10 Cases 15 Cases TCR-alpha-beta-positive T-cell deficiency 20 Cases 1.3 P * 10 Families 7 Families Temtamy syndrome 18 Cases 1.71 I * Tetralogy of Fallot 34.0 BP Tetrasomy 12p 4.0 BP * 40 Cases Tetrasomy X 3312 Thalidomide embryopathy 2655 Thanatophoric dysplasia 0.77 P 3.5 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 54 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families Thiamine-responsive encephalopathy Thiamine-responsive 49827 megaloblastic anemia syndrome Thickened earlobes 2405 conductive deafness 199348 2 Cases 614 3320 3323 67044 436169 54057 1078 Thomsen and Becker disease 3398 Thymic epithelial neoplasm 3326 Thymic-renal-anal-lung dysplasia 99867 Thymoma 3327 2 Families 173 Cases 1.0 P 10 Cases 0.2 BP * 2 Cases 3 Families 15 Cases 25.5 P * 6 Cases 3 Cases 2 Cases 12.7 P 100088 Thyroid carcinoma 3.1 I 14.3 P * 95719 Thyroid hemiagenesis 25.0 P 95720 Thyroid hypoplasia 3.5 P 100087 Thyroid tumor 3.2 I Tibial aplasia - ectrodactyly 93322 Tibial hemimelia 609 Tibial muscular dystrophy 0.1 P * 0.1 BP * 6.0 P * 20 Cases 314667 TMEM165-CDG 5 Cases 3460 Torg-Winchester syndrome 12 Cases 3338 Toriello-Carey syndrome 60 Cases Toriello-Lacassie-Droste 3339 syndrome Torticollis - keloids 3341 cryptorchidism - renal dysplasia 3348 Tracheobronchopathia osteochondroplastica 861 Treacher-Collins syndrome 30 Cases 1000.0 I * 10 Cases 0.3 BP * 1 Case 0.3 P * 0.15 I * 31.7 BP * 2.0 BP * Tricho-dento-osseous syndrome Tricho-retino-dento-digital 1264 syndrome 30 Cases 9 Cases 5 Families Trichodental syndrome Trichodysplasia - amelogenesis imperfecta Trichomegaly - retina 3363 pigmentary degeneration dwarfism 79129 1 Family 11 Cases 4 Cases Trichoodontoonychial dysplasia 100 Cases 33364 Trichothiodystrophy 65283 Timothy syndrome Tracheal agenesis 40 Cases Trichorhinophalangeal 77258 syndrome type 1 and 3 2 Families 3346 Transient bullous dermolysis of the newborn Transient congenital 178045 hypothyroidism Transient infantile 300293 hypertriglyceridemia and hepatosteatosis Transient neonatal diabetes 99886 mellitus Transient neonatal multiple 329942 acyl-CoA dehydrogenase deficiency Transmissible spongiform 56970 encephalopathy Transmissible spongiform 56970 encephalopathy Transposition of the great 216675 arteries 3355 42665 Tietz syndrome 95455 Toxic epidermal necrolysis 23 Cases Transcobalamin deficiency 3351 0.14 I * 100088 Thyroid carcinoma 3329 101028 Transaldolase deficiency 3352 0.17 I * Thyrocerebrorenal syndrome 95712 Thyroid ectopia Number of Estimated published prevalence/incidence cases or (/100,000) families 79411 Thoracolaryngopelvic dysplasia Thrombocytopenia - absent radius Thrombocytopenia - Robin sequence Thrombocytopenia with congenital dyserythropoietic anemia Thrombomodulin-related bleeding disorder Thrombotic thrombocytopenic purpura Thumb stiffness - brachydactyly - intellectual disability Disease or Group of diseases 859 80 Cases 98960 Thiel-Behnke corneal dystrophy 3317 ORPHA Number 201 Cases 1209 Tricuspid atresia 4.2 BP * 3368 Trigonocephaly - bifid nose acral anomalies 2 Cases 3365 Trigonocephaly - broad thumbs 2 Cases Trigonocephaly - short stature developmental delay Triose phosphate-isomerase 868 deficiency Triphalangeal thumb 2950 polysyndactyly syndrome Triphalangeal thumbs 2947 brachyectrodactyly 3369 3 Cases 50 Cases 15 Families 4 Families 19 Cases 869 Triple A syndrome 7 Cases 3376 Triploidy 1742 Trisomy 5p 40 Cases 1752 Trisomy 8q 30 Cases 0.19 I 2.0 BP * 400 Cases 100 Cases 12.6 BP * 171929 Trisomy 10p 1699 Trisomy 12p 50 Cases 2.0 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 55 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 3378 Trisomy 13 3.7 BP * 3412 VACTERL with hydrocephalus 3380 Trisomy 18 16.7 BP 887 VACTERL/VATER association 1715 Trisomy 18p 3417 Van den Bosch syndrome 1 Family 3375 2460 Van den Ende-Gupta syndrome 18 Cases 25 Cases Trisomy X 42.5 P * 88629 Tritanopia 4.8 P * 314652 Variant ABeta2M amyloidosis 3384 Truncus arteriosus 4.3 BP 52759 Vasculitis 3389 Tuberculosis 3389 Tuberculosis 805 Tuberous sclerosis complex 73224 Tubular renal disease cardiomyopathy 1063 Tufted angioma 20.0 P * 139.0 I 64.0 P * 182130 Tumor of endocrine glands 3.75 I * 363472 Tumor of testis and paratestis 3.15 I * Turner syndrome 99745 Typhoid 882 Tyrosinemia type 1 70476 Vernal keratoconjunctivitis 2 Cases 1493 200 Cases 228379 5.5 BP * 3.0 I * 0.9 BP 28378 Tyrosinemia type 2 150 Cases 69723 Tyrosinemia type 3 20 Cases 3403 Uhl anomaly 3404 Ulbright-Hodes syndrome 3 Cases 2249 Ulna hypoplasia - intellectual disability 2 Cases 3138 1.0 BP 117 Cases Ulnar-mammary syndrome Ulnar/fibula ray defect brachydactyly Umbilical cord ulceration 3405 intestinal atresia Undifferentiated pleomorphic 2023 sarcoma Unilateral multicystic dysplastic 97363 kidney 52056 1 Family 15 Cases 0.9 I * 99069 Univentricular heart with single atrio-ventricular valve 2 Cases 3408 Upington disease 1 Family Usher syndrome 7.5 BP 35.0 P * 4 Cases 7 Cases Uveal coloboma-cleft lip and palate-intellectual disability 39044 Uveal melanoma Von Voss-Cherstvoy syndrome 903 Von Willebrand disease 12 Cases 0.5 I * 98715 Uveitis 38.0 P * 98715 Uveitis 17.0 I * 272.0 BP * 11 Cases 32.0 P * 20 Cases 7 Cases 2 Cases 192 Cases 60 Cases 450 Cases 15 Cases 12.5 P 83453 Vulvovaginal gingival syndrome 2804 W syndrome 3440 Waardenburg syndrome 897 Waardenburg-Shah syndrome 898 Wagner disease WAGR syndrome 899 Walker-Warburg syndrome 380 Cases 6 Cases 0.37 BP * 50 Cases 100 Cases 0.2 BP 1.0 P * 0.81 I * 1.65 BP * 280558 Warsaw breakage syndrome 3447 Weaver syndrome 3448 Weaver-Williams syndrome 3449 Weill-Marchesani syndrome 99971 Well-differentiated liposarcoma 4.8 P * 178338 UV-sensitive syndrome 1473 3439 Waldenström macroglobulinemia Waldenström 33226 macroglobulinemia Univentricular heart 886 6.3 P * Virus-associated trichodysplasia spinulosa Visceral neuropathy - brain 73246 anomalies - facial dysmorphism - developmental delay Vitamin B12-responsive 28 methylmalonic acidemia Vitamin B12-responsive 79310 methylmalonic acidemia type cblA Vitamin B12-unresponsive 79312 methylmalonic acidemia type mut- 33226 23.2 BP 210128 Urocanic aciduria 5 Cases Vici syndrome 893 1464 94059 Uremic pruritus Ventricular septal defect 6.25 BP * Ventriculomegaly-cystic kidney 443988 disease 10.0 BP * 182130 Tumor of endocrine glands 881 1480 10 Families 4 Cases 48 Cases 30 Cases 1.0 P 0.51 I * 901 Wells syndrome 80 Cases 902 Werner syndrome 0.5 P * 3451 West syndrome 8.0 P * 3451 West syndrome 3.7 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 56 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families 51636 WHIM syndrome 65 Cases 370131 White platelet syndrome 1 Family Wiedemann-Rautenstrauch syndrome Wild type ABeta2M 85446 amyloidosis 3455 330001 Wild type ATTR amyloidosis 904 Williams syndrome 905 25 Cases 4.5 P * 30.0 P * 10.8 BP Wilson disease 3.3 P 905 Wilson disease 2.2 BP 3459 Wilson-Turner syndrome 906 Wiskott-Aldrich syndrome 1667 Wolcott-Rallison syndrome 280 Wolf-Hirschhorn syndrome 3463 Wolfram syndrome 3464 Woodhouse-Sakati syndrome 28 Cases 0.1 P * 60 Cases 2.0 BP * 0.13 P 30 Cases Woolly hair - hypotrichosis 1409 everted lower lip - outstanding ears Woolly hair-palmoplantar 420686 keratoderma syndrome Woolly hair-palmoplantar 65282 keratoderma-dilated cardiomyopathy syndrome 3465 Worster-Drought syndrome 178475 Wound botulism 1 Family 8 Cases 7 Cases 3.7 P * 0.1 I * 2834 Wrinkly skin syndrome 30 Cases 3466 WT limb-blood syndrome 3 Families 43 X-linked adrenoleukodystrophy 5.0 BP 47 X-linked agammaglobulinemia 0.22 P 391327 X-linked calvarial hyperostosis 329235 64747 101078 352675 431140 1497 90001 52503 X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 6 X-linked colobomatous microphthalmia-microcephalyintellectual disability-short stature syndrome X-linked complicated corpus callosum dysgenesis X-linked cone dysfunction syndrome with myopia X-linked creatine transporter deficiency 1 Family 27 Cases 1.6 P * 7 Cases 8 Cases 1 Family 11 Cases 10 Families 150 Cases ORPHA Number Disease or Group of diseases X-linked distal arthrogryposis multiplex congenita X-linked dominant 35173 chondrodysplasia punctata X-linked dominant 163966 chondrodysplasia, ChassaingLacombe type X-linked dyserythropoetic 363727 anemia with abnormal platelets and neutropenia X-linked Ehlers-Danlos 75497 syndrome X-linked Emery-Dreifuss 98863 muscular dystrophy X-linked Emery-Dreifuss 98863 muscular dystrophy X-linked endothelial corneal 293621 dystrophy X-linked hereditary sensory and 139583 autonomic neuropathy with deafness X-linked hypohidrotic 181 ectodermal dysplasia X-linked immunodeficiency with magnesium defect, 317476 Epstein-Barr virus infection and neoplasia X-linked immunoneurologic 2571 disorder X-linked intellectual disability 85327 acromegaly - hyperactivity X-linked intellectual disability 85338 ataxia - apraxia X-linked intellectual disability 324410 cardiomegaly - congestive heart failure X-linked intellectual disability 137831 cerebellar hypoplasia X-linked intellectual disability 85330 corpus callosum agenesis spastic quadriparesis X-linked intellectual disability 163979 craniofacioskeletal syndrome X-linked intellectual disability 85280 cubitus valgus - dysmorphism X-linked intellectual disability 1568 Dandy-Walker malformation basal ganglia disease - Seizures X-linked intellectual disability 2958 dysmorphism - cerebral atrophy X-linked intellectual disability 85319 epilepsy - progressive joint contractures - dysmorphism X-linked intellectual disability hypogammaglobulinemia 85317 progressive neurological deterioration X-linked intellectual disability 85331 hypogonadism - ichthyosis obesity - short stature Number of Estimated published prevalence/incidence cases or (/100,000) families 1145 14 Families 0.25 BP * 10 Cases 1 Family 2 Families 1.0 P 1.0 BP 35 Cases 5 Families 0.75 BP * 7 Cases 5 Cases 2 Cases 9 Cases 2 Cases 12 Families 4 Cases 7 Cases 5 Cases 10 Cases 8 Cases 2 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 57 ORPHA Number Disease or Group of diseases X-linked intellectual disability 85329 hypotonia - facial dysmorphism - aggressive behavior X-linked intellectual disability 85320 macrocephaly - macroorchidism X-linked intellectual disability 2898 plagiocephaly X-linked intellectual disability 85318 precocious puberty - obesity X-linked intellectual disability 3077 psychosis - macroorchidism X-linked intellectual disability 3052 seizures - psoriasis X-linked intellectual disability 163982 spastic quadriparesis X-linked intellectual disability 67045 with isolated growth hormone deficiency X-linked intellectual disability, 85273 Abidi type X-linked intellectual disability, 85276 Armfield type X-linked intellectual disability, 85293 Cabezas type X-linked intellectual disability, 85277 Cantagrel type X-linked intellectual disability, 163971 Cilliers type X-linked intellectual disability, 93947 Golabi-Ito-Hall type X-linked intellectual disability, 163961 Kroes type X-linked intellectual disability, 85283 Miles-Carpenter type X-linked intellectual disability, 163937 Najm type X-linked intellectual disability, 85322 Pai type X-linked intellectual disability, 85285 Schimke type X-linked intellectual disability, 85323 Seemanova type X-linked intellectual disability, 85286 Shashi type X-linked intellectual disability, 85324 Shrimpton type X-linked intellectual disability, 85287 Siderius type X-linked intellectual disability, 3063 Snyder type X-linked intellectual disability, 85325 Stevenson type X-linked intellectual disability, 85288 Stocco Dos Santos type X-linked intellectual disability, 85326 Stoll type X-linked intellectual disability, 163976 Van Esch type Number of Estimated published prevalence/incidence cases or (/100,000) families 10 Cases 12 Cases 2 Cases 3 Cases 6 Cases 4 Cases 9 Cases 3 Families 8 Cases 6 Cases 24 Families 9 Cases 4 Cases 3 Cases 3 Cases 4 Cases 35 Families 1 Family 4 Cases 4 Cases 9 Cases 3 Cases 2 Families 11 Cases 4 Cases ORPHA Number Disease or Group of diseases X-linked intellectual disability, Vitale type X-linked intellectual disability, 85290 Wilson type X-linked intellectual disability, 85291 Wittwer type X-linked intellectual disability, 85337 Zorick type X-linked intellectual disabilitylimb spasticity-retinal 423479 dystrophy-diabetes insipidus syndrome X-linked lissencephaly with 452 abnormal genitalia X-linked lymphoproliferative 2442 disease X-linked mandibulofacial 1131 dysostosis X-linked mendelian 319605 susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial 319612 diseases due to IKBKG deficiency X-linked microcephaly-growth 435938 retardation-prognathismcryptorchidism syndrome X-linked myopathy with 25980 excessive autophagy X-linked myopathy with 178461 postural muscle atrophy X-linked neurodegenerative 85334 syndrome, Bertini type X-linked neurodegenerative 85336 syndrome, Hamel type X-linked non progressive 314978 cerebellar ataxia X-linked osteoporosis with 391330 fractures X-linked parkinsonism363654 spasticity syndrome X-linked recessive intellectual 83648 disability - macrocephaly ciliary dysfunction X-linked recessive ocular 54 albinism X-linked reticulate pigmentary 85453 disorder with systemic manifestations 85289 792 X-linked retinoschisis X-linked scapuloperoneal muscular dystrophy X-linked severe congenital 86788 neutropenia 431272 1 Family 4 Cases 7 Cases Number of Estimated published prevalence/incidence cases or (/100,000) families 8 Cases 3 Cases 3 Cases 6 Cases 2 Cases 200 Cases 0.05 P * 7 Cases 13 Cases 4 Cases 3 Cases 15 Families 1 Family 7 Cases 10 Cases 3 Families 5 Families 5 Cases 1 Family 0.58 BP * 6 Families 5.0 P 14 Cases 45 Cases 75563 X-linked sideroblastic anemia 200 Cases X-linked sideroblastic anemia and ataxia 5 Families 2802 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 58 ORPHA Number Disease or Group of diseases Number of Estimated published prevalence/incidence cases or (/100,000) families X-linked spastic paraplegia type 16 X-linked spastic paraplegia type 171607 34 X-linked spinocerebellar ataxia 85297 type 3 X-linked spinocerebellar ataxia 85292 type 4 100997 910 276252 276255 276258 276261 276264 276267 90342 220295 3469 Xeroderma pigmentosum 1 Family 24 Cases 5 Cases 1 Family 0.23 BP * Xeroderma pigmentosum complementation group B Xeroderma pigmentosum complementation group C Xeroderma pigmentosum complementation group D Xeroderma pigmentosum complementation group E Xeroderma pigmentosum complementation group F Xeroderma pigmentosum complementation group G Xeroderma pigmentosum variant Xeroderma pigmentosumCockayne syndrome complex 10 Families 50 Cases 30 Cases 10 Cases 22 Cases 10 Cases 50 Cases 30 Cases 10 Cases XK aprosencephaly Xq12-q13.3 duplication syndrome Xq27.3q28 duplication 261483 syndrome 314389 3 Cases 8 Cases 370930 XYLT1-CDG 662 2 Cases Yellow nail syndrome 150 Cases Young adult-onset distal 314485 hereditary motor neuropathy 3 Cases 2828 Young-onset Parkinson disease 3472 Yunis-Varon syndrome 15.0 P * 25 Cases 97240 Zebra body myopathy 10 Cases 217017 Zechi-Ceide syndrome 3 Cases Zellweger-like syndrome 50812 without peroxisomal anomalies Zimmermann-Laband 3473 syndrome 3253 Zlotogora-Ogur syndrome 913 Zollinger-Ellison syndrome 2 Cases 52 Cases 50 Cases 0.125 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 - March 2016 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 59 For any questions or comments, please contact us: contact.orphanet@inserm.fr Editor-in-chief :Ana Rath – Editor of the report:Stéphanie Stéphanie Nguengang Wakap – Technical support : Samuel Demarest and Valérie Lanneau The correct form when quoting this document is : «Prevalence of rare diseases: Bibliographic data », Orphanet Report Series, Rare Diseases collection, March 2016, Number 1 : Diseases listed in alphabetical order http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf This Orphanet Report Series is part of the joint action 677024 RD-ACTION which has received funding from the European Union’s Health Programme (2014-2020). The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.
