Ritscher-Schinzel syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020022
central nervous system malformation
is_a
MONDO:0100545
hereditary neurological disease
is_a
3C syndrome
exact
CCC dysplasia
exact
Craniocerebellocardiac dysplasia
exact
Dandy-Walker like malformation with atrioventricular septal defect
related
Dandy-Walker-like malformation with ASD
related
Dandy-Walker-like malformation with atrioventricular septal defect
related
Ritscher Schinzel syndrome
related
Ritscher-Schinzel cranio-cerebello-cardiac syndrome
related
Ritscher-Schinzel syndrome
exact
cranio-cerebello-cardiac dysplasia
related
craniocerebellocardiac dysplasia
exact