Living with Brachydactylous dwarfism, Mseleni type
A rare joint and bone condition, mainly in one region of South Africa, causing joint pain and stiffness, mostly in the hips.
Understanding Brachydactylous dwarfism, Mseleni type
It causes joint disease on both sides of the body, most severe in the hips but also in the knees, ankles, wrists, shoulders, and elbows. Pain and stiffness slowly limit movement and can make walking harder. Short stature and short fingers have been reported in a few people. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joint pain
- Joint stiffness that limits movement
- Hip and knee osteoarthritis
- Severe short stature
- Short toes
- Thin bones (osteopenia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. GARD doesn't name a specific gene yet.
Also known as: brachydactylous dwarfism mseleni type; mseleni joint disease
Patient organizations
- Little People of AmericaBrachydactylous dwarfism, Mseleni type · United States
You are more than your diagnosis
Perspectives from people navigating life with Brachydactylous dwarfism, Mseleni type.
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