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. [ Orphanet:7 ]
Synonyms: CCC dysplasia Craniocerebellocardiac dysplasia 3C syndrome craniocerebellocardiac dysplasia Ritscher-Schinzel syndrome
Term information
- Orphanet:7 (MONDO:equivalentTo)
- OMIMPS:220210 (MONDO:equivalentTo)
- MESH:C535313 (Orphanet:7/e)
- GARD:5666 (MONDO:GARD)
- MEDGEN:163220 (MONDO:equivalentTo)
- UMLS:C0796137 (MONDO:equivalentTo)
- SCTID:718556007 (MONDO:equivalentTo)
- DOID:0060565 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://www.orpha.net/ORDO/Orphanet_7
http://purl.obolibrary.org/obo/DOID_0060565
http://identifiers.org/mesh/C535313
http://linkedlifedata.com/resource/umls/id/C0796137
http://identifiers.org/medgen/163220
https://omim.org/phenotypicSeries/PS220210
http://identifiers.org/snomedct/718556007
Dandy-Walker-like malformation with ASD
Dandy-Walker like malformation with atrioventricular septal defect
cranio-cerebello-cardiac dysplasia
Ritscher-Schinzel cranio-cerebello-cardiac syndrome
Ritscher Schinzel syndrome
Dandy-Walker-like malformation with atrioventricular septal defect
https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect
Term relations
- hereditary neurological disease
- central nervous system malformation
- congenital nervous system disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation
- disease has feature some Dandy-Walker syndrome