Living with Epiphyseal dysplasia, multiple, 6
An inherited bone growth condition causing joint pain after activity and early joint wear.
Understanding Epiphyseal dysplasia, multiple, 6
In early childhood, it usually shows up as hip or knee pain after exercise. Children may tire with long walks and may waddle. Adult height is in the lower normal range or mildly short, with limbs short compared to the trunk. Joint pain and deformity can progress and lead to early arthritis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Knee pain
- Hip pain
- Joint pain
- Arthritis (osteoarthritis)
- Irregular or small ends of long bones
- Waddling walk
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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
- A doctor familiar with rare conditions, plus specialists as needed
- 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
This condition is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: col9a1 multiple epiphyseal dysplasia (disease); col9a1-related multiple epiphyseal dysplasia; epiphyseal dysplasia, multiple, type 6; multiple epiphyseal dysplasia (disease) caused by mutation in col9a1
Patient organizations
- Little People of AmericaEpiphyseal dysplasia, multiple, 6 · United States
You are more than your diagnosis
Perspectives from people navigating life with Epiphyseal dysplasia, multiple, 6.
Explore research for Epiphyseal dysplasia, multiple, 6
Explore actively recruiting Epiphyseal dysplasia, multiple, 6 studies with HealthSpark.
Find actively recruiting studies for Epiphyseal dysplasia, multiple, 6 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 Epiphyseal dysplasia, multiple, 6 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 Epiphyseal dysplasia, multiple, 6
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 Epiphyseal dysplasia, multiple, 6 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.