brachydactylous dwarfism, Mseleni type
Findings
No curated finding names brachydactylous dwarfism, Mseleni type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mseleni joint disease (MJD) is 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.
Definition from the Mondo Disease Ontology (MONDO:0013232), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal femoral head morphologyHPOHP:0003368
- Very frequent (80% to 99% of cases)
- Abnormality of the ankleHPOHP:0003028
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- BrachytelomesophalangyHPOHP:0005872
- Very frequent (80% to 99% of cases)
- Hip osteoarthritisHPOHP:0008843
- Very frequent (80% to 99% of cases)
- Knee osteoarthritisHPOHP:0005086
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Joint subluxationHPOHP:0032153
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
- Osteoarthritis of the elbowHPOHP:0003940
- Frequent (30% to 79% of cases)
- Stiff shouldersHPOHP:0009742
- Frequent (30% to 79% of cases)
- Protrusio acetabuliHPOHP:0003179
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: brachydactylous dwarfism, Mseleni type
- Also called
- Mseleni joint disease