Синдром CHARGE
ORPHA:138· ICD-10 Q87.8· CHARGE syndrome
Визначення(English summary)
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Unknown
- Вік початку
- Antenatal, Neonatal