Living with Multiple epiphyseal dysplasia due to collagen 9 anomaly
A rare bone condition with early joint pain and stiffness, mostly in the knees, and joint wear over time.
Understanding Multiple epiphyseal dysplasia due to collagen 9 anomaly
People with this condition have normal height or are mildly short. Pain and stiffness mainly affect the knees, and can also affect the elbows, wrists, ankles, and fingers. The hips are mostly spared. Joint wear (degenerative joint disease) can start early. GARD lists onset in childhood and the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Knee pain
- Hip joint pain
- Abnormal shape of the ends of bones
- Arms and legs that are shorter than usual
- Reduced arm span
- Symptoms that get worse after activity
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.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 says changes in genes cause this condition. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia due to collagen 9 anomaly.
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