CHARGE syndrome Flashcards
1
Q
What is the inheritance of CHARGE syndrome?
A
AD
Most sporadic
2
Q
What is the mutation for CHARGE syndrome?
A
Chromosome 8 mutation
3
Q
What are the clinical manifestations for CHARGE syndrome?
A
C = Coloboma H = Heart malformation A = choanal Atresia R = Retardation in growth or development G = Genital anomalies E = Ear anomalies
Other:
- Rhombencephalic dysfunction
- Hypoplasia of semicircular canals
