DYSMORPHISM

DEFINITION:
• The study of human congenital
malformations that originate
before birth & particularly
those affecting the anatomy
of the individual
 PATHOGENETIC
MECHANISM:
1. Malformation:
 Morphologic defect of an organ, part of an organ,
due to intrinsic abnormal developmental process.
 According to:
a) Affection of body function  minor/major
b) Number in an individual single(isolated)/multiple
 E.g: - cleft palate/lip
- cardiac septal defect (VSD, ASD)
- neural tube defects(anancephaly/lumbo-sacral
meningomyelocele)
2. Deformation:
 Abnormal form, shape/ position of part of the body
which has differentiated normally
 Caused by mechanical forces (extrinsic defect)
 E.g: - talipes equinovarus
- developmental dislocation of hip (DDH)

 Not essentially detectable at birth but develops later

and still genetically determined.
3. Disruption:
 Morphologic defect of an organ, part of organ /
lager region.
 Due to factors causing arrest of normal development
involving multiple tissue (extrinsic breakdown)
 The factors:
a) Amniotic bands / strands
b) Vascular disruptions : due to abnormal
development of fetal blood vessels / disturbances
in placental circulation
4. Dysplasia:
 Structural defects.
 Abnormal cellular organization / function  affect
just one general tissue type throughout the body.
 Usually caused by mutant genes that affect
intracellular pathways of intermediary metabolism.
 E.g – storage diseases (MPS)
- ectodermal dysplasia with involvement of skin,
hair, nails, teeth.
 TYPES OF DEFECTS:
1. Major / minor:
a) Major:
 Affect body function significantly
 Need urgent surgery otherwise will reduce life
expectancy (pyloric stenosis, cleft lip, VSD)
 Occur in 3% of newborns
b) Minor:
 Not affect body function but have cosmetic
significance
 (clinodactyly of 5th finger, preauricular tags,
epicanthal folds)
 Occurance : 14%
2. Isolated / multiple:
a) Isolated :
 Affecting only single body site
 2/3 of all major abnormalities
 Cleft lip/palate, CHD, pyloric stenosis
b) Multiple :
 Multiple structural abnormalities
 Many implications (causation and prognosis)
 Possible combinations almost limited but
 One/two major anomalies associated with several
minor.
 GENETIC DISORDERS:
1. DOWN’S SYNDROME (TRISOMY 21)
2. TURNER’S SYNDROME (MONOSOMY X)
3. NOONAN SYNDROME
4. ACHONDROPLASIA
5. FETAL ALCOHOL SYNDROME (FAS)
6. GOLDENHAR SYNDROME
7. HOLT-ORAM SYNDROME
 DOWN’S SYNDROME
• Autosomal chromosomal aberrations (chromosome
21)
• Incidence 1:660
• Equal sex distribution
• Cytogenic types :
 Complete (non-disjunction) – 47,XX, +21 (95%)
 Tanslocation – 46, XX, t(15q,21q) (3-4%)
 Mosaicism – 47, XX, +21 / 46, XX (1-2%)
• C/p :
 Mental retardation – mild/moderate
 Developmental retardation
 Hypotonia

 General features :
 Head – brachycephalic, microcephaly, silky
hair, wide ant. fontanelle
 Eyes – upward slanting, narrow palpebral
fissure, med.epichanthic fold, hypertelorism,
brush field spots iris, nystagmus, cataract.
 Ears – small, backward displacement, low set.
 Nose – small, depressed nasal-bridge.
• Tongue – protruded. Fissured
• Mandible – micrognathia
• Neck – short, webbed
• Abdomen (10%) – cong.megacolon, imperforate
anus, umbilical hernia, duodenal atresia
• CHD (50%) – AVCD, VSD
• Hands – brachydactyly (short, broad), clinodactyly
(incurved little finger), simian crease (single
transverse palmer crease
• Feet – wide space between big toe and second
toe, syndal line (deep platar crease)
• Genitals – poorly developed
Trisomy 21
 TURNER’S SYNDROME
• Sex chromosomal aberrations (monosomy X) (45, X)
• Incidence 1:5000
• C/p :
 Short stature
 Mental subnormality (IQ-high levels)
 Face – hypertolerism, epichantic fold, narrow maxilla,
small mandible, low set ears.
 Neck – webbed
 Wide space nipples.
 Extremities – cuitus vulgus, lymphadema of dorsum of
foot and hands (infancy)
 CHD (35%) – COARC
 Cong.renal disease
 Infertility due to ovarian dysgenesis.
 Noonan Syndrome
Definition
• Genetic disorder that prevents normal development in various
parts of the body.

Clinical Approach
1. Face
- Hypertelorism - Down-slanting eyes
- Webbed neck - Wide forehead & small
chin
2. Eyes
- Strabismus - Refractive errors
- Ambylopia & ptosis - Nystagmus
3. Musculoskeletal
- Pectus deformity - Cubitus vulgus
- Broad thorax with wide spaced nipple
 Achondroplasia
Definition
• Bone growth disorder that causes disproportionate
dwarfism with nomal torso and short limbs.

Clinical Approach
1. Infants & Children
- Hydrocephalus - Kyphosis
- Hypotonia - Sleep apnea
- Otitis media
2. Adults
- Kyphosis, lordosis, scoliosis - Bowed legs
- Recurrent ear infections - Short arms & legs
- Difficulty in bending elbows - Spinal stenosis
FETAL ALCOHOL SYNDROME
Group of signs and symptoms appear in a baby whose mother drank alcohol during
pregnancy

CLINCAL FEATURES :
Pre/post natal growth deficiency
Microcephaly

Small distal phalanges and

Short palpebral fissures
nails

Developmental delay Thin upper lip

Behavioral problems Smooth philtrum

Hypotonia Moderate MR
GOLDENHAR SYNDROME
(Facio-Auriculo-Vertebral Spectrum)

• A congenital birth defect which involves the deformities of the face.

• Etiology is unknown but maybe due to deficiency in mesodermal formation.

CLINICAL FEATURES :
Epibulbar
Micrognathia Macrostomia
dermoids

Ext/mid ear Hemifacial

Hearing loss
anomalies microsomia

C-spine
Colobomas
anomalies
HOLT-ORAM SYNDROME
(Heart and Hand syndrome)

Inherited autosomal dominant trait due to mutation in transcription factor called TBX5

• CLINICAL FEATURES :

• THUMB
• CHD • Radial DEFECTS
(ASD>>VSD) defects (triphalangeal,
hypoplastic,
absent)
 SYNDROMES ASSOCIATIONS

DEFINITO A combination of symptoms Combination of anomalies which

N and signs that show the occur more frequently than by
existence of a particular chance alone with unknown
disease. initiating cause.

CAUSES Known . Eg : Down syndrome is Unknown . Eg : VATER &

caused by Trisomy 21 CHANGE
 Ventricular Septal Defect
Definition
(VSD)
• VSD is a hole or a defect in the septum that divides the 2
lower chambers of the heart, resulting in communication
between the ventricular cavities.

Clinical Approach
1. Small VSD
- Asymptomatic
2. Moderate or large VSD
- Tachypnea & tachycardia - Poor weight
gain
- Feeding difficulties - Hepatomegally
- Recurrent respiratory infection - Excessive sweating
- Murmur
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