Синдром 3С
ORPHA:7· ICD-10 Q87.8· 3C syndrome
Визначення(English summary)
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive, X-linked recessive
- Вік початку
- Antenatal, Infancy, Neonatal