Living with Exostoses, multiple, type 1
An inherited condition with many bony growths, mostly at the ends of long bones, that can change bone shape.
Understanding Exostoses, multiple, type 1
The growths mostly form on the ends of long bones. They can also affect flat bones, ribs, and the spine. They are capped with cartilage and can cause bone shape changes in the legs, forearms, and hands.
Signs & symptoms
GARD describes this feature in its summary:
- Many bony growths (exostoses)
- Bone shape changes in the legs
- Bone shape changes in the forearms and hands
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
Changes in the EXT1 gene cause this condition. It is autosomal dominant, which means a person only needs one changed copy of the gene from one parent.
Also known as: exostoses, multiple caused by mutation in ext1; exostoses, multiple, type i; ext1; ext1 exostoses, multiple; hereditary multiple osteochondromatosis, type i
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 Exostoses, multiple, type 1.
Explore research for Exostoses, multiple, type 1
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- Eligibility is confirmed by the study team
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