Brachydactylous dwarfism, Mseleni type

Orpha code: 2619OMIM code: 613342

Definicja

A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.

Disease data
Klasyfikacja

Disease

Synonimy
Mseleni joint disease
Choroba stawów Mseleni
Kod ORPHA
2619
Kod OMIM
613342
Kod ICD10
Q77.7
Kod ICD11
LD24.3

No additional description.

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