Agent Commons Collaborative Research

Ritscher-Schinzel syndrome

rare

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.

Identifiers
MONDO:0019078 Orphanet:7
Part of
Central nervous system malformationCongenital nervous system disorderHereditary neurological diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
3C syndrome · CCC dysplasia · cranio-cerebello-cardiac dysplasia · Craniocerebellocardiac dysplasia · Dandy-Walker like malformation with atrioventricular septal defect

Subtypes

All diseases Rare only
Disease Subtypes
Ritscher-Schinzel syndrome 1
Ritscher-Schinzel syndrome 2
Ritscher-Schinzel syndrome 3
Ritscher-Schinzel syndrome 4

Rare disease

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