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Brachydactylous dwarfism, Mseleni type

Synonym(s) Mseleni joint disease
Prevalence Unknown
Inheritance Unknown
Age of onset Childhood
  • Q77.7
  • C2931420
  • C537086
MedDRA -


Mseleni joint disease (MJD) is an unusual form of progressive degenerative osteoarthropathy affecting mainly the major joints of the hips, knees, ankles and spine. It is characterized by short stature and marked brachydactyly of fingers and toes, often associated with osteopenia. The disease has been identified in several hundred people in Mseleni region of Northern Zululand, South Africa, among the Zulu and Tonga people. Affected individuals experience articular discomfort in childhood and may be seriously handicapped as adults, often requiring prosthetic hip joint replacement. Management consists in pain-relief (aspirin, non-steroidal anti-inflammatory drugs). For severe disease, total hip replacement provides pain reduction and improvement of mobility. The pathogenesis of the disorder remains unknown; autoimmune or inflammatory causes, as well as particular environmental factors may be implicated. Although the condition clusters in families, there is no evidence of Mendelian inheritance.

Expert reviewer(s)

  • Dr Martine LE MERRER

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