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Orofaciodigital syndrome type 4

Orpha number ORPHA2753
Synonym(s) Baraitser-Burn syndrome
OFD4
Oral-facial-digital syndrome type 4
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 239031000

Summary

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet. Approximately 15 cases have been reported so far. Additional features include hypoplastic mandible, micrognathia, cleft palate, prominent eyes, low-set ears and normal intelligence. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.

Expert reviewer(s)

  • Pr Marie-Paule VAZQUEZ

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