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Orofaciodigital syndrome type 5

Disease definition

A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

ORPHA:2919

Classification level: Disorder
  • 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: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 174300
  • UMLS: C1868118
  • MeSH: -
  • GARD: 4120
  • MedDRA: -

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