Living with Dysplasia epiphysealis hemimelica
A rare bone condition in children in which extra bone growth forms near the ends of long bones, often on one side of a joint.
Understanding Dysplasia epiphysealis hemimelica
In this condition, the ends of bones (epiphyses) grow in an irregular way. It can cause extra, noncancerous bone growths, joint pain and stiffness, and uneven growth of the limbs. Symptoms usually begin in childhood or the teen years. GARD says the cause is not known.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain
- Joint stiffness
- Extra noncancerous bone growths (exostoses)
- Uneven growth of one part of the body
- Knock knees or bowlegs
- Flat feet
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 the cause isn't known. It lists autosomal dominant inheritance, meaning one changed copy of a gene can cause it.
Also known as: trevor disease; trevor's disease
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 Dysplasia epiphysealis hemimelica.
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