Pediatric Genetic Disorders

Question 1

Defect in FMR1 gene (CGG trinucleotide repeats)
Primarily affects males
Mental Retardation, Macrognathia, Macroorchidism, MVP

Answer 1

Fragile X Syndrome

Question 2

Defect in Chromosome 7
Mental Retardation, elfin facies, extreme friendliness
Hypercalcemia, Supravalvular aortic stenosis

Answer 2

William’s Syndrome

Question 3

Deletion in Chromosome 22
“CATCH-22”:
-Cleft Palate, Abnormal Facies, Thymic and parathyroid gland aplasia, Congenital heart disease, Hypocalcemia (2/2 parathyroid aplasia)
Dx: Intradermal Candida test

Answer 3

DiGeorge Syndrome

Question 4

Cafe-au-lait spots
Lisch Nodules in eyes
Optic Gliomas (or other CNS tumors)
Pheochromocytomas

Answer 4

NF1 (Von Recklinghausen Syndrome)

Question 5

Bilateral acoustic neuromas

Juvenile onset of cataracts

Answer 5

NF2

Question 6

Facial Angiofibromas
CNS and/or retinal hamartomas 
Hypopigmented "ash-leaf spots" 
Renal Angiomyolipomas 
Cardiac rhabdomyomas

Answer 6

Tuberous Sclerosis

Question 7

Generalized organomegaly
Macroglossia
Neonatal hypoglycemia
Predilection to Wilm’s Tumor and/or hepatoblastoma

Answer 7

Beckwith-Wiedemann Syndrome

Question 8

Facial “port-wine stain”
Ipsilateral AVM
Gyriform calcifications on Head CT

Answer 8

Sturge-Weber Syndrome

Question 9

Staggering gait + frequent falls
kyphoscoliosis
Pes Cavus + hammer toes
Death 2/2 hypertrophic cardiomyopathy

Answer 9

Friedrich Ataxia