Brachydactylous dwarfism, Mseleni type

Orpha code: 2619OMIM code: 613342

Definition

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
Classification

Disease

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

No additional description.

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