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Brachydactyly-elbow wrist dysplasia syndrome

Disease definition

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

ORPHA:1275

  • Synonym(s):
    • Brachydactyly-joint dysplasia syndrome
    • Liebenberg syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q73.8
  • OMIM: 186550
  • UMLS: -
  • MeSH: -
  • GARD: 966
  • MedDRA: -

Additional information

Further information on this disease

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