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Ritscher-Schinzel syndrome
Summary
- Synonym
-
- 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.
- Super Class
- monogenic disease syndrome
External Links
- Disease Ontology
- DOID:0060565
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
