Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome
Definition
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.
Also known as 3C syndrome, CCC dysplasia, Craniocerebellocardiac dysplasia, Ritscher-Schinzel syndrome — per MONDO