Ritscher-schinzel syndrome 1

Preferred Label : Ritscher-schinzel syndrome 1;

Symbol : RTSC1;

CISMeF acronym : RTSC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniocerebellocardiac dysplasia; Dandy-walker-like malformation with atrioventricular septal defect; 3c syndrome;

Description : The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay (summary by Leonardi et al., 2001; Seidahmed et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the KIAA0196 gene (KIAA0196, 610657.0004);

Prefixed ID : #220210;

Details

Origin ID

220210;

UMLS CUI

C4551776;

Automatic exact mappings (from CISMeF team)
- WASHC5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- 3C syndrome [MeSH concept]
- 3C syndrome [MeSH Supplementary Concept]
- 3C syndrome [ORDO Disease]
- Cranio-cerebello-cardiac dysplasia syndrome (disorder) [SNOMED CT concept]
- Dandy Walker like syndrome [Disease (Nov.)]
- Ritscher-Schinzel syndrome [DO Concept]
DO Cross reference
- Ritscher-Schinzel syndrome 1 [DO Concept]
Genes related to phenotype
- Wash complex, subunit 5 [OMIM gene]
HPO term(s)
- Adrenal hypoplasia [HPO term]
- Anal atresia [HPO term]
- Aortic valve stenosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Cleft palate [HPO term]
- Coloboma [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Depressed nasal bridge [HPO term]
- Double outlet right ventricle [HPO term]
- Downslanted palpebral fissures [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemivertebrae [HPO term]
- High forehead [HPO term]
- High, broad forehead [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic left heart [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Missing ribs [HPO term]
- Posterior fossa cyst [HPO term]
- Prominent occiput [HPO term]
- Pulmonic stenosis [HPO term]
- Single umbilical artery [HPO term]
- Syndactyly [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- 3C syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3C syndrome [ORDO Disease]
- 3C syndrome [MeSH Supplementary Concept]
- 3C syndrome [MeSH concept]
- Cranio-cerebello-cardiac dysplasia syndrome (disorder) [SNOMED CT concept]
- Dandy Walker like syndrome [Disease (Nov.)]
- Ritscher-Schinzel syndrome [DO Concept]
Validated automatic mappings to BTNT
- Ritscher-Schinzel syndrome 1 [DO Concept]

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