CHARGE syndrome
ORPHA:138· ICD-10 Q87.8
Definition
A multiple congenital anomaly characterized by a broad phenotype with Coloboma, Choanal atresia/stenosis, Cranial nerve dysfunction, and Characteristic external and inner ears (known as the major 4 C's).
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Neonatal