Orphanet: Orofaciodigital syndrome type 10
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Orofaciodigital syndrome type 10

Disease definition

A rare multiple congenital anomalies syndrome 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. No new cases have been described since 1993.

ORPHA:2756

Classification level: Disorder
  • 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: -

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Additional information

Further information on this disease

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