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Brachydactyly type B

Disease definition

A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.

ORPHA:93383

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal
  • ICD-10: Q73.8
  • ICD-11: LD26.1
  • OMIM: 113000  611377
  • UMLS: C1300267
  • MeSH: -
  • GARD: 985
  • MedDRA: -

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

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.