Living with Multiple epiphyseal dysplasia type 1
A rare inherited bone condition with hip and knee pain, joint changes, and early joint wear, starting in childhood.
Understanding Multiple epiphyseal dysplasia type 1
People with MED 1 have normal or mildly short height. They have pain in the hips or knees and arms or legs that slowly change in shape. Joint wear (osteoarthritis) can start early. The hips are more affected than in other types, and adult height is shorter. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hip joint pain
- Knee pain
- Hip problems (hip dysplasia)
- Walking differences (abnormal gait)
- Short long bones
- 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.
- 3Consider genetic testing
Changes in COMP 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 COMP gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: comp multiple epiphyseal dysplasia (disease); comp-related multiple epiphyseal dysplasia; edm1; epiphyseal dysplasia, multiple, type 1; med1; multiple epiphyseal dysplasia (disease) caused by mutation in comp
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia type 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia type 1.
Explore research for Multiple epiphyseal dysplasia type 1
Explore actively recruiting Multiple epiphyseal dysplasia type 1 studies with HealthSpark.
Find actively recruiting studies for Multiple epiphyseal dysplasia type 1 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Multiple epiphyseal dysplasia type 1 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Multiple epiphyseal dysplasia type 1
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Multiple epiphyseal dysplasia type 1 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.