| Metadata | |
|---|---|
| ID | DOID:0060565 |
| Name | Ritscher-Schinzel syndrome |
| 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. https://en.wikipedia.org/wiki/3C_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:718556007 |
| Subsets |
DO_rare_slim |
| Synonyms |
CCC dysplasia [EXACT] craniocerebellocardiac dysplasia [EXACT] |
| Parent Relationships |
is_a syndrome is_a monogenic disease |