Ritscher-Schinzel syndrome

Term ID

DOID:0060565

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. https://en.wikipedia.org/wiki/3C_syndrome

References

• MESH:C535313
• MIM:PS220210
• ORDO:7
• SNOMEDCT_US_2023_03_01:718556007
• UMLS_CUI:C0796137

Ontology

Human Disease   ( DOID:0060565 )