Otofaciocervical syndrome 1

Preferred Label : Otofaciocervical syndrome 1;

Symbol : OTFCS;

CISMeF acronym : OFC1; OTFCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OFC1; Ofc;

Description : Otofaciocervical syndrome (OFC) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). - Genetic Heterogeneity of Otofaciocervical Syndrome OFC2 (615560) is caused by mutation in the PAX1 gene (167411) on chromosome 20p11.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the EYA transcriptional coactivator and phosphatase 1 gene (EYA1, 166780.0014);

Prefixed ID : #166780;

Details

Origin ID

166780;

UMLS CUI

C3714941;

Automatic exact mappings (from CISMeF team)
- orofacial cleft 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Otofaciocervical syndrome [ORDO Disease]
- Otofaciocervical syndrome (disorder) [SNOMED CT concept]
- otofaciocervical syndrome [MeSH concept]
- otofaciocervical syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Eya transcriptional coactivator and phosphatase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Conductive hearing impairment [HPO term]
- Down-sloping shoulders [HPO term]
- Intellectual disability, mild [HPO term]
- Long face [HPO term]
- Long neck [HPO term]
- Narrow nose [HPO term]
- Preauricular pit [HPO term]
- Scapular winging [HPO term]
- Sloping shoulders [HPO term]
ORDO concept(s)
- Otofaciocervical syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients