Living with Carpotarsal osteochondromatosis
A very rare bone condition that causes extra bone growth and bony lumps in the arms and legs.
Understanding Carpotarsal osteochondromatosis
Osteochondromas are bony growths that are covered with cartilage. GARD says this condition usually shows up in adults.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Extra bone growth
- Bony growths (osteochondromas) in the arms
- Bony growths (osteochondromas) in the legs
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.
- 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); 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 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
GARD says changes in genes cause this condition. It is inherited in an autosomal dominant way, so one changed copy of a gene can cause it. No specific gene is listed.
Also known as: dysplasia epiphysealis hemimelica with chondromas and osteochondromas; maroteaux le-merrer bensahel syndrome; maroteaux-le merrer-bensahel 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 Carpotarsal osteochondromatosis.
Explore research for Carpotarsal osteochondromatosis
Explore actively recruiting Carpotarsal osteochondromatosis studies with HealthSpark.
Find actively recruiting studies for Carpotarsal osteochondromatosis 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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