Orofaciodigital syndrome VI

Preferred Label : Orofaciodigital syndrome VI;

Symbol : OFD6;

CISMeF acronym : OFD6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ofds VI; Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation; Oral-facial-digital syndrome, type VI; Varadi syndrome; Varadi-papp syndrome;

Description : Oral-facial-digital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities (Doss et al., 1998).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 5 open reading frame 42 gene (C5ORF42, 614571.0007);

Prefixed ID : #277170;

Details

Origin ID

277170;

UMLS CUI

C2745997;

Currated CISMeF NLP mapping
- Joubert syndrome with orofaciodigital defect [DO Concept]
- Joubert syndrome with orofaciodigital defect (disorder) [SNOMED CT concept]
- Oral-facial-digital syndrome type 6 [ICD-11 More detail]
- Orofaciodigital Syndrome Type 6 [NCIt concept]
- Orofaciodigital syndrome 6 [MeSH concept]
- Orofaciodigital syndrome type 6 [ORDO Disease]
- orofaciodigital syndrome 6 [MeSH Supplementary Concept]
DO Cross reference
- Joubert syndrome with orofaciodigital defect [DO Concept]
Genes related to phenotype
- Ciliogenesis and planar polarity effector complex, subunit 1 [OMIM gene]
HPO term(s)
- Accessory oral frenulum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad nasal tip [HPO term]
- Central Y-shaped metacarpal [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Conductive hearing impairment [HPO term]
- Epicanthus [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypothalamic hamartoma [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Mesoaxial hand polydactyly [HPO term]
- Micrognathia [HPO term]
- Molar tooth sign on MRI [HPO term]
- Nystagmus [HPO term]
- Postaxial polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Radial deviation of finger [HPO term]
- Renal agenesis [HPO term]
- Renal dysplasia [HPO term]
- Short stature [HPO term]
- Toe syndactyly [HPO term]
- Tongue nodules [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome with orofaciodigital defect [DO Concept]
- Joubert syndrome with orofaciodigital defect (disorder) [SNOMED CT concept]
- Orofaciodigital Syndrome Type 6 [NCIt concept]
- Orofaciodigital syndrome 6 [MeSH concept]
- Orofaciodigital syndrome type 6 [ORDO Disease]
- orofaciodigital syndrome 6 [MeSH Supplementary Concept]

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