Living with Multiple epiphyseal dysplasia, Beighton type
A rare bone condition that affects the joints, short stature, vision, and hearing.
Understanding Multiple epiphyseal dysplasia, Beighton type
This condition affects the growth of the ends of the bones (epiphyses). People with it are short in height and have short fingers, knock knees, and joint pain. It also involves early nearsightedness, thinning of the retina, cataracts, and hearing loss caused by problems in the middle ear (conductive hearing loss).
Signs & symptoms
GARD doesn't list a detailed symptom list for this condition, but the summary describes these features:
- Short stature
- Short fingers (brachydactyly)
- Knock knees (genu valgus)
- Joint pain
- Early nearsightedness that gets worse (myopia)
- Hearing loss (conductive)
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
GARD doesn't describe a cause for this condition yet. It is listed as autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: epiphyseal dysplasia, multiple, with myopia and deafness; multiple epiphyseal dysplasia-myopia-deafness syndrome
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia, Beighton type · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia, Beighton type.
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