Otofaciocervical syndrome 2, with t-cell deficiency

Preferred Label : Otofaciocervical syndrome 2, with t-cell deficiency;

Symbol : OTFCS2;

CISMeF acronym : OFC2; OTFCS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OFC2;

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). For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OFC1 (166780).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in paired box gene-1 (PAX1, 167411.0001);

Prefixed ID : #615560;

Details

Origin ID

615560;

UMLS CUI

C5442121;

Genes related to phenotype
- Paired box gene 1 [OMIM gene]
HPO term(s)
- Alacrima [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Carious teeth [HPO term]
- Clinodactyly [HPO term]
- Conjunctivitis [HPO term]
- Cupped ear [HPO term]
- Dental malocclusion [HPO term]
- Down-sloping shoulders [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability, moderate [HPO term]
- Lacrimal duct stenosis [HPO term]
- Low-set ears [HPO term]
- Mastoiditis [HPO term]
- Microretrognathia [HPO term]
- Mixed hearing impairment [HPO term]
- Periorbital dermoid cyst [HPO term]
- Preauricular pit [HPO term]
- Renal cyst [HPO term]
- Scapular winging [HPO term]
- Tapered finger [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Otofaciocervical syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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