Living with Multiple epiphyseal dysplasia
An inherited condition affecting cartilage and bone at the ends of long bones, with joint pain in the hips and knees and early arthritis.
Understanding Multiple epiphyseal dysplasia
There are two types, a dominant and a recessive one. Both have fairly mild signs, including joint pain in the hips and knees, early arthritis, and a waddling walk. Some people have mild short stature as adults, but most are of normal height. Most are diagnosed in childhood, though mild cases may not be found until adulthood. The recessive type can also involve differences in the hands, feet, and knees and scoliosis.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Joint pain in the hips and knees
- Early-onset arthritis
- Waddling walk
- Mild short stature in some people
- Curved spine (scoliosis), in the recessive type
- Clubfoot or cleft palate at birth, in the recessive type
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 (also called variants) cause this condition. It can be autosomal dominant (a changed copy from one parent is enough) or autosomal recessive (a changed copy from each parent).
Also known as: dominant multiple epiphyseal dysplasia; edm; fairbanks-ribbing type epiphyseal dysplasia; med; med - multiple epiphyseal dysplasia; multiple epiphyseal dysplasia (disease)
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia.
Explore research for Multiple epiphyseal dysplasia
Explore actively recruiting Multiple epiphyseal dysplasia studies with HealthSpark.
Find actively recruiting studies for Multiple epiphyseal dysplasia 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 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
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 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.