Living with Enchondromatosis
A genetic condition with benign cartilage growths inside bones, most often in the hands and feet.
Understanding Enchondromatosis
The growths most often appear in the arm and leg bones, especially the hands and feet. They can also occur in the skull, ribs, and spine. Signs may be present at birth but usually show up around age 5. They can cause bone changes, shorter limbs, and fractures. The growths often stop forming once growth ends in early adulthood. Intelligence is not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Several cartilage growths in the bones (enchondromas)
- Bone pain
- Smaller or shorter limbs (micromelia)
- Joint stiffness
- Firm lumps under the skin
- Red or purple skin marks (hemangioma)
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, genetic specialists and hormone 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); Cancer specialists (oncologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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
This condition is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: congenital enchondromatosis; dyschondroplasia; enchondromatosis with haemangiomata; enchondromatosis, multiple; enchondromatosis, multiple, ollier type; kast's syndrome
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 Enchondromatosis.
Explore research for Enchondromatosis
Explore actively recruiting Enchondromatosis studies with HealthSpark.
Find actively recruiting studies for Enchondromatosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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