
Living with Multiple epiphyseal dysplasia, with miniepiphyses
A rare bone condition with very small growth areas at the ends of bones, mainly affecting the hips.
Understanding Multiple epiphyseal dysplasia, with miniepiphyses
In this condition the growth centers at the ends of the bones (mini-epiphyses) are very small, in all or only some joints. This can cause serious bone problems in the top of the thigh bones at the hip. Short height, a deep curve in the lower back, bow legs, and loose joints have also been reported. GARD lists onset in infancy and childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Very small growth centers at bone ends
- Hip bone changes
- Short stature
- Deeper curve in the lower back
- Bow legs (genua vara)
- Loose joints
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
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: multiple epiphyseal dysplasia with miniepiphyses
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia, with miniepiphyses · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia, with miniepiphyses.
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