3C syndrome

Orpha code: 7OMIM code: 619435

Definition

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput 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 (see these terms).

Disease data
Classification

Malformation syndrome

Synonyms
Craniocerebellocardiac dysplasia
Dysplazja czaszkowo - mózgowo - sercowa
Zespół Ritschera i Schinzela
Ritscher-Schinzel syndrome
ORPHA code
7
OMIM code
619435
ICD10 code
Q87.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl