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Orofaciodigital syndrome type 5

Orpha number ORPHA2919
Synonym(s) OFD5
Oral-facial-digital syndrome type 5
Orofaciodigital syndrome, Thurston type
Polydactyly postaxial with median cleft of upper lip
Thurston syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). Less than 20 patients (predominantly of Indian origin) have been reported so far. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.


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