Living with Multiple congenital exostosis
An inherited condition (hereditary multiple osteochondromas) with several noncancerous bone growths that can affect growth and movement.
Understanding Multiple congenital exostosis
They are not present at birth, but about 96 percent of affected people have them by age 12. They form at the ends of long bones and on flat bones such as the hip and shoulder blade. They can disrupt bone growth, causing short stature, uneven limb lengths, forearm or ankle bowing, and hip problems. They may also cause pain, limited joint movement, and pressure on nerves or blood vessels. GARD notes a small chance (1 in 20 to 1 in 200) that one becomes cancerous.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Multiple bone growths (osteochondromas)
- Short stature
- Bowed forearm bones and uneven limb lengths
- Pain
- Limited joint movement
- Knee and thighbone differences
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, cancer 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); Cancer specialists (oncologists); 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 and other patient organizations
- 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 is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: bessel-hagen disease; diaphyseal aclasia; exostoses, multiple; ext; hereditary multiple exostoses; hereditary multiple exostosis
Patient organizations
- Little People of AmericaMultiple congenital exostosis · United States
- MHE Research FoundationMultiple congenital exostosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple congenital exostosis.
Explore research for Multiple congenital exostosis
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