Ritscher-Schinzel Syndrome

Synonyms: Dandy-Walker-like syndrome, cranio-cerebello-cardiac (3C, CCC) dysplasia or syndrome

A syndrome of craniofacial anomalies (macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, depressed nasal bridge, narrow palate, and apparently low-set ears), and atrioventricular septal defect. One sister in the original report had Dandy-Walker malformation (absent or hypoplastic cerebellar vermis, hydrocephalus, and posterior fossa continuing with the fourth ventricle). Additional anomalies include colobomas, hypertelorism, hand abnormalities, and mental retardation.

Major Features:

Revelant reading
Ritscher D, Schinzel A et al Dandy-Walker (like) malformation, atrioventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome. Am J Med Genet, 1987, 26:481-91
Jablonski's Syndromes Database

Entry date: March 14, 2005.