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
- GARD:5666 (MONDO:GARD)
- MEDGEN:163220 (MONDO:equivalentTo)
- SCTID:718556007 (MONDO:equivalentTo)
- DOID:0060565 (MONDO:equivalentTo)
- OMIMPS:220210 (MONDO:equivalentTo)
- MESH:C535313 (Orphanet:7/e)
- UMLS:C0796137 (MONDO:equivalentTo)
- Orphanet:7 (MONDO:equivalentTo)
ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis
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 syndrome
Ritscher-Schinzel cranio-cerebello-cardiac 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
- [X] hereditary neurological disease
- [X] central nervous system malformation
- [X] congenital nervous system disorder
- [X] multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some [X] central nervous system malformation
- disease has feature some Dandy-Walker syndrome