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Brachydactyly-preaxial hallux varus syndrome

Disease definition

A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.

ORPHA:1278

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q73.8
  • OMIM: 112450
  • UMLS: C4518542
  • MeSH: -
  • GARD: 972
  • MedDRA: -

  A summary on this disease is available in Italiano (2008) Português (2008) Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.