Term Name: | Ritscher-Schinzel syndrome |
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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 ) |