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Orofaciodigital syndrome type 10

Disease definition

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.

ORPHA:2756

  • Synonym(s):
    • Figuera syndrome
    • OFD10
    • Oral-facial-digital syndrome type 10
    • Orofaciodigital syndrome with fibular aplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 165590
  • UMLS: C1833796
  • MeSH: -
  • GARD: 4061
  • MedDRA: -

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