Carpotarsal osteochondromatosis

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ORPHA:2767OMIM:127820D16.9
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Overview

Carpotarsal osteochondromatosis is an extremely rare bone condition in which multiple benign (non-cancerous) bony growths, called osteochondromas, develop specifically in the small bones of the wrists (carpal bones) and ankles (tarsal bones). These growths are made of bone and cartilage and can cause pain, swelling, stiffness, and reduced movement in the affected joints. The condition is sometimes also referred to as synovial chondromatosis of the carpus and tarsus or carpotarsal osteochondromatosis. Unlike the more common hereditary multiple exostoses (where bony growths appear on long bones throughout the body), this condition is localized primarily to the hands and feet. The growths may gradually increase in size or number over time, potentially leading to joint deformity and difficulty with gripping, walking, or performing fine motor tasks. In some cases, the growths can compress nearby nerves or tendons, causing additional discomfort or weakness. Because this disease is so rare, there is no established cure. Treatment is mainly supportive and symptom-based. Surgical removal of the bony growths may be recommended when they cause significant pain, limit joint movement, or compress important structures. Physical therapy and pain management are also commonly used. Long-term follow-up with imaging is important to monitor for recurrence of the growths after surgery. Research into this condition is very limited, and much of what is known comes from individual case reports in the medical literature.

Also known as:

Key symptoms:

Bony lumps or growths in the wrist areaBony lumps or growths in the ankle areaJoint pain in the hands or feetStiffness in the wrists or anklesReduced range of motion in affected jointsSwelling around the wrist or ankle jointsDifficulty gripping or holding objectsDifficulty walking or bearing weight on the feetJoint deformity over timeNumbness or tingling if nerves are compressedWeakness in the hands or feet

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Carpotarsal osteochondromatosis.

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No actively recruiting trials found for Carpotarsal osteochondromatosis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Carpotarsal osteochondromatosis community →

No specialists are currently listed for Carpotarsal osteochondromatosis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Carpotarsal osteochondromatosis.

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Community

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Latest news about Carpotarsal osteochondromatosis

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How many growths are present and where exactly are they located?,Do any of the growths need to be surgically removed right now?,What is the risk of the growths coming back after surgery?,Is there any chance these growths could become cancerous?,What physical therapy or exercises can help maintain joint function?,How often should imaging be repeated to monitor for new growths?,Should genetic testing be considered to rule out related conditions?

Common questions about Carpotarsal osteochondromatosis

What is Carpotarsal osteochondromatosis?

Carpotarsal osteochondromatosis is an extremely rare bone condition in which multiple benign (non-cancerous) bony growths, called osteochondromas, develop specifically in the small bones of the wrists (carpal bones) and ankles (tarsal bones). These growths are made of bone and cartilage and can cause pain, swelling, stiffness, and reduced movement in the affected joints. The condition is sometimes also referred to as synovial chondromatosis of the carpus and tarsus or carpotarsal osteochondromatosis. Unlike the more common hereditary multiple exostoses (where bony growths appear on long bones

How is Carpotarsal osteochondromatosis inherited?

Carpotarsal osteochondromatosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.