Living with Metachondromatosis
A rare bone condition with cartilage and bone growths, mostly in the hands and feet, that often shrink on their own.
Understanding Metachondromatosis
The first signs occur during the first decade of life. The growths most often occur in the fingers and toes, and enchondromas occur in the hip bones and ends of long bones. The growths often shrink or disappear on their own. Nerve weakness or blood vessel problems may occur in some cases.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cartilage growths in bone (enchondromas)
- Bony growths on bone surfaces (exostoses)
- Bone pain
- Nerve weakness (cranial nerve paralysis)
- Death of bone tissue from low blood supply (avascular necrosis)
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.
- 3Consider genetic testing
Changes in PTPN11 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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 MHE Research Foundation
- 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 PTPN11 gene have been linked to it in several families. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: metcds
Patient organizations
- MHE Research FoundationMetachondromatosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Metachondromatosis.
Explore research for Metachondromatosis
Explore actively recruiting Metachondromatosis studies with HealthSpark.
Find actively recruiting studies for Metachondromatosis 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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