Syndromes

Question 1

CHARGE syndrome

Answer 1

A/with Choanal Atresia.
AD - CHD-7 gene affected.
C- Coloboma eye
H- Heart defects
A- Atresia (choanal)
R- Retardation (growth) 
G- Genitourinary anomalies
E- Ear anomalies

Question 2

Potter’s Syndrome

Answer 2

B/L renal agenesis -> oligohydramnios -> fetal compression.

C/F: pulmonary hypoplasia, Potter’s Facies, Limb abnormalities (CTEV)

Question 3

Wiskot - Aldrich Syndrome

Answer 3

X linked Recessive (only boys)
Combined immunodeficiency (Bcell&Tcell)

C/F: triad - thrombocytopenia, eczema, recurrent infections

WATER WiskotAldrich Thrombocytopenia, Eczema, Recurrent infections(pneumonia)

IgM decreased, IgA&E increased

Rx- bone marrow transplantation.

Question 4

BRUTON’s Agammaglobulinemia

Answer 4

X linked Recessive
Bruton’s tyrosine kinase enzyme defect.
No B cells, no Antibodies, defense against capsulated bacterium lost ( Pneumococci, Meningococci, H. Influenza)
Rx - Periodic IVIg supplementation.

Question 5

Alport’s syndrome

Answer 5

X linked Dominant 
Familial nephritis 
Anterior lenticonus
SNHL
Corneal erosion
Macular flecks
Abnormal COL4A5 (alpha- 5- chain of type 4 collagen)
Microscopy - basket weaving appearance

Question 6

Sturge-Weber syndrome

Answer 6

Sporadic gene mutation in chromosome 9.
C/F
1. Port-wine stain (Hemangioma)
2. Glaucoma
3. Leptomeningeal angioma- calcifies- Tram Track calcification

Question 7

Meckel- Gruber syndrome

Answer 7

Encephalocele; polydactyly; PCKD; Cleft lip & palate.

Question 8

Aicardia syndrome

Answer 8

Triad - 1. Agenesis of corpus callosum, 2. Infantile spasm, 3. Choriretinal lacunae

Very lethal in males

A/with - v.low IQ, intractable seizures, Retinal pits, coloboma optic disc, vertebral defects(henivertebra).

Question 9

Soto’s syndrome

Answer 9

aka Cerebral Gigantism aka Overgrowth syndrome
A/with -Intellectual Disability
- premature tooth eruption
- developmental delay

Question 10

Beckwith- Wiedemann syndrome

Answer 10

aka Hemihypertophy (one side of child larger than other)

• increased risk of wilm’s tumor
• macroglossia
• omphalocele/Umbilical hernia