Patterns of Congenital
Abnormalities
Lecturer of Experimental Embryology
Zoology Dept., Faculty of Science, Mansoura University
Causes of human congenital anomalies
Down syndrome (Trisomy 21)

1:800 of birth

Mental deficiency
,heart defects .

Round face

Short digits

Incurving of the fifth
digit
Female Trisomy 18

1:8000 of birth

Mental deficiency

Micrognathia ,low set ear

Growth retardation

Second and fifth digit
overlapping the third and
fourth

Short sternum

Narrow pelvis
Female with trisomy 13

1:25000 of birth

Mental deficiency, CNS
malformation
,microphthalmia

Bilateral cleft lip &palate

Low set malformed ears

Polydactyly

Small omphalocoele
Young male with Klinefelter syndrome
(XXY trisomy)

1:1080 of birth

Presence of breasts

Gynecomastia (excessive
development of male
mammary glands)

Small testes
,aspermatogenesis due
to hyalinization of
seminiferous tubules

Less intelligent
Structural chromosomal abnormalities

A) Reciprocal
translocation

B) Terminal deletion

C) Ring chromosome

D) Duplication

E) Paracentric
inversion

F) Isochromosome

G) Robertsonian
translocation
Cri-du-chat syndrome

Terminal deletion of the short arm end of
the chromosome no. 5

Child has a weak catlike cry

Mental retardation ,microcephaly ,heart
disease.
Chondroplasia

Due to a G to A transition
mutation of the fibroplast
growth factor receptor 3
gene on chromosome 4p

Short limbs and fingers

Normal length of the
trunk

Bowed legs

Relatively large head

Depressed nasal bridge

Prominent forehead
Fragile X-syndrome

A) mentally retarded
boy with long face
and prominent ears

B) his six years old
sister mild learning
disability, long face
crossed-right eye

Due to gene
mutation
Fatal alcohol syndrome

Due to high level of alcohol
intake during early
pregnancy

Thin upper lip ,Flat nasal
bridge , Short nose
,microcephaly

Elongated and poorly formed
philtrum (vertical groove in
median part of upper lip)

Mental retardation
Aminopterin-induced abnormalities

Is an anti-metabolite drug

A) meroanencephaly
(partial absence of the
brain)

B) intrauterine growth
retardation, large head,
small mandibles,
deformed ears,
clubhands and clubfoots
Goiter

Congenital enlargement
of thyroid gland due to
anti-thyroid drugs
ingested by mother
Cataract and glucoma


A) bilateral cataract
caused by Rubella
virus also have
cardiac defect and
deafness
B) congenital
glucoma caused by
Rubella virus with
enlarged corneal
diameter
A
B
First arch syndrome

Due to insufficient
migration of neural crest
cells into the first
pharyngeal arch

Defect in the cheek
between the auricle and
the mouth

Hypoplasia of mandibles

Macostomia
Sublingual thyroid mass

Without evidence of
functioning thyroid tissue
Unilateral cleft lip and palate

1 : 1000 births

Cleft involve the hard &
soft region of palate

60-80% affected infant
are males
Types of cleft lip

A , B) Unilateral cleft lip

b) Is incomplete

C,D) Bilateral cleft lip
Congenital anomalies of the face

A) median cleft of the upper lip

B) median cleft of the lower lip

C) bilateral oblique facial cleft
with bilateral cleft lip.(rare)

D) macrostomia

E) single nostril and microstomia

F) bifid nose and incomplete
median cleft
Cleft lip

Type: External
 Region/Structure:
Mouth / Jaw
 Definition: Fissure of
the upper lip

A:Cont. B:Malformed

B,C:Bilateral (rabbit)
B
A
CC
C
Cleft face

Type: External
 Region/Structure:
Face
 Definition: Fissure
of the face and jaw
 Related Term :
Prosoposchisis
Cleft palate

Type: External
 Region/Structure:
Mouth / Jaw
 Definition: Fissure of
the palate
 1:2500 birth, commen
in females than males
High-arched palate

Type: External
 Region/Structure:
Mouth / Jaw
 Definition :A higher
than normal palatal
arch
Agnathia

Type: External
 Region/Structure:
Mouth / Jaw
 Definition: Absence
of the lower jaw
(mandible)
 Related Term :
Agenesis, Aplastic
Mandibular micrognathia

Type: External
 Region/Structure:
Mouth / Jaw
 Definition: Small
lower jaw (mandible)
 Synonym or Related
Term :Brachygnathia,
Micromandible

A :Open eye ,B :Misshappen
pinna ,C :Skin tag
B
C
A
Omphaloceole

Result from a median defect
of the abdominal
muscles,fascia, and skin at
the umbilicus

Herniation of intra-abdominal
structure liver and intestine
into the proximal end of the
umbilical cord

It is covered by a membrane
composed of peritoneum and
amnion
Omphalocele






Type: External
Region/Structure: Trunk
Definition: Protrusion of
intra-abdominal viscera into
the umbilical cord with
viscera contained in a thin
translucent sac of
peritoneum and amnion
Notes: The condition may
present with ruptured sac
Related Term :Exomphalos
Arrow: Attached Placenta
Gastrochisis

The viscera protrude into the
amniotic cavity

Due to anterior wall (2-4 cm.)
is split .

More commen in male than
female.

Due to drugs &chemicals.
Horse-shoe kidney

Fusions of the inferior poles
of the kidneys while they
were in the plevis

Larger right kidney has bifid
ureter

1:500 birth

Normal ascent is prevented
Duplex kidney

With 2 ureters and
renal pelves

Result from
incomplete division
of the metanephric
diverticulum or
ureteric bud
Ectopia cordis

Cleft sternum

Bilateral cleft lip

Die in the first days of life
from infection, cardiac failure
and hypoxemia

Extremely rare
Ectopia cordis

Type: External
 Region/Structure:
Trunk
 Definition :Heart
displaced outside
thoracic cavity due to
failure of ventral
closure
Local edema

Type: External
 Region/Structure:
General
 Definition :Localized
accumulation of fluid
Hemorrhage
 Type:
External
 Region/Structure:
General
 Definition :An
accumulation of
extravasated
blood
Forked Rib

Type: Internal
 Region/Structure:
Vertebral Column
Fontanelles and
sutures
1)
Anterior Fontanelle
2)
Posterior fontanelle
3)
Posteriolateral (mastoid)
fontanelle
4)
Anteriolateral (sphenoid)
fontanelle
1)Sagittal Suture
1
4
4
3
2
2)Lamboid Suture
1
1
3)Coronal Suture
4) Frontal (metopic) Suture
2
3
Skeletal system abnormalities

Acrania (partial absence of
calvaria)

Meroanenchphaly (partial
absence of the brain),ressult
from failure of the cranial end
of neural tube to close.

Rachishisis (extensive cleft
in the vertebral arches of the
vertebral column)

Myelochisis (severe anomly
of spinal corde)
Scaphocephaly

Long, narrow, wedge
shaped skull due to
craniosynostosis
(premature closure of
the sagittal suture

More commen in
male than in female.
Acephaly
 Type:
External
 Region/Structure:
Cranium
 Definition :Absence
of the head
Exencephaly




Type: External
Region/Structure:
Cranium
Definition: The brain
protrudes outside the
skull due to absence of
the cranial vault
Notes :Erosion of brain
tissue has not occurred
as in Anencephaly
Meningocele
 Type:
External
 Region/Structure:
Cranium
 Definition :
Herniation of
meninges through
defect in skull
Anasarca

Type: External
 Region/Structure:
General
 Definition :
Generalized edema
Amelia and meromelia

A) Quadruple amelia
(comlete absence of the
upper and lower limbs).

B, C) meromelia (partial
absence) of the upper
limb .

caused by thalidomide.
Various types of meromelia

Partial absence of limbs
(disturbance of growth of limb)

A) absence of hands and most of
fore-arms

B) absence of the digits

C) absence of the hand

D) absence of the fourth and fifth
digits, syndactyly of the second and
third digit

E) absence of third digit, cleft hand

F) absence of second and third
toes, syndactyly of fourth and fifth
toes
Limb anomaly

A) brachydactyly

B) hypoplasia of the
thumb

C) polydactyly (fingers)

D) polydactyly (toes)

E) Partial duplication of
the foot

F) Partial duplication of
the thumb
Polydactyly

Showing partial
duplication of the right
foot & toes
 Supernumerary digits
which is incompletely
formed and lack of
muscular
development
Meromelia

Limb reduction

Caused by thalidomide
ingested during critical
period of limb
development
Syndactyly





2nd &3rd .
1:2200 birth.
More frequent in foot
than in hand.
It may be Cutaneous
or Osseous.
May be inherited
Ectrodactyly






Type: External
Region/Structure: Paw /
Digit
Definition: Absence of
one or more digit(s)
Notes: Expected
skeletal alterations
include absence of all
phalanges in each
affected digit
Related Term :
Agenesis, Aplastic,
Oligodactyly
Forelimb 5th digit absent.
Limb hyperextension

Type: External
 Region/Structure:
Limb
 Definition :The
excessive extension
or straightening of a
limb or a joint

A
A : Normal , B : Malformed
B
Sirenomelia





Type: External
Region/Structure:
Limb
Definition: Fusion of
lower limbs
Notes: May involve
lower torso
Related Term :
Symelia
Polydactyly

Type: External
 Region/Structure:
Paw / Digit
 Definition:
Supernumerary
digit(s)
Bowed limb

Type: External
 Region/Structure:
Limb
 Definition: Usually
seen as an outward
bending of the limb
 Arrow:Omphalocele
Thread-like tail

Type: External
 Region/Structure: Tail

Related Term :
Filamentous, Filiform
Narrowed tail

Type: External
 Region/Structure: Tail
 Related Term :
Constricted
Curled tail

Type: External
 Region/Structure: Tail
 Definition: Curved into
nearly a full circle
 Related Term :Curly
Hooked tail

Type: External
 Region/Structure: Tail
 Definition :
Approximately 180
degree bend or curve
of the tail
 Forelimb postaxial
Open eye






Type: External
Region/Structure: Eye
Definition: Partial or
complete deficiency of
the eyelid
Notes: Eyeball usually
visible
Related Term :
Ablepharia
Arrow : Exencephaly
Cyclopia


Type: External
Region/Structure: Eye
 Definition: Single orbit;
eye's) can be absent,
completely or
incompletely fused
 Notes: Nose may be
absent or appear as a
frontonasal appendage
(proboscis) above the
orbit
 Synonym or Related
Term :Monophthalmia,
Synophthalmia
Malpositioned pinna

Type: External
 Region/Structure: Ear
 Synonym or Related
Term :Displaced,
Ectopic, Low set
Short trunk

Type: External
 Region/Organ/Structu
re: Trunk
Conjoined twins





Type: External
Region/Structure: General
Definition: Monozygotic
twins with variable
incomplete separation into
two during cleavage or early
stages of embryogenesis
Notes: Site and extent of
fusion may be described
Related Term :Double
monster
Thank you
Dr.A.A.A.Gadallah