Living with Multiple epiphyseal dysplasia type 5
A rare inherited bone condition with early knee and hip pain, joint stiffness, and early arthritis.
Understanding Multiple epiphyseal dysplasia type 5
People with this type have pain and stiffness in the knees and hips starting in childhood. Arms and legs can slowly change in shape, and arthritis can start earlier than usual. Height is normal or mildly short, and walking problems are less common than in some other types.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Knee pain
- Hip problems (hip dysplasia)
- Knock knees (genu valgum)
- Bow legs (genu varum)
- Mild short stature
- Early arthritis (premature osteoarthritis)
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.
- 3Consider genetic testing
Changes in MATN3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
GARD lists changes in the MATN3 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: bhmed; bilateral hereditary micro-epiphyseal dysplasia; edm5; epiphyseal dysplasia, multiple, type 5; matn3 multiple epiphyseal dysplasia (disease); med5
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia type 5 · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia type 5.
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