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Brachydactyly type A4

Disease definition

A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.

ORPHA:93394

Classification level: Disorder
  • Synonym(s):
    • Brachydactyly, Temtamy type
    • Brachymesophalangy II and V
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q73.8
  • ICD-11: LD26.1
  • OMIM: 112800
  • UMLS: C1862139
  • MeSH: C537097
  • GARD: 990
  • MedDRA: -

  A summary on this disease is available in Português (2008) Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.