Term Name: Ritscher-Schinzel syndrome
Synonyms: CCC dysplasia, craniocerebellocardiac dysplasia
Definition: A syndrome characterized by craniofacial (prominent occiputal 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.
Ontology: Human Disease [DOID:0060565]   ( DOID:0060565 )

Relationships
is a type of: monogenic disease syndrome
has subtype: Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2