OBSOLETE: Radial hemimelia, unilateral

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ORPHA:295069
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Overview

Radial hemimelia, also known as radial ray deficiency or radial club hand, is a condition present at birth where the radius bone (the bone on the thumb side of the forearm) is partially or completely missing on one side of the body (unilateral). This condition affects how the hand, wrist, and forearm develop. Children born with this condition may have a shorter forearm, a wrist that curves inward toward the thumb side, and the thumb may be small, underdeveloped, or completely absent. The fingers may also be affected. The term 'OBSOLETE' in the Orphanet classification means this specific entry has been retired or merged into a broader category of radial ray deficiencies. Radial hemimelia can occur as an isolated finding or as part of a broader syndrome, such as Holt-Oram syndrome, VACTERL association, Fanconi anemia, or thrombocytopenia-absent radius (TAR) syndrome. Because of these associations, doctors will typically check for heart defects, blood disorders, kidney problems, and spinal abnormalities. Treatment usually involves surgery to straighten the wrist, reconstruct or transfer a finger to create a functional thumb (pollicization), and physical therapy to improve hand function. Early intervention with splinting and stretching is important. The outlook depends on whether the condition is isolated or part of a syndrome, and many children achieve good hand function with appropriate treatment.

Also known as:

Key symptoms:

Shortened forearm on one sideWrist bent inward toward the thumb sideMissing or underdeveloped thumbMissing or shortened radius boneReduced grip strengthDifficulty grasping objectsCurved forearmStiff wristSmaller hand on the affected sideLimited wrist movementUnderdeveloped muscles in the forearm

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Radial hemimelia, unilateral.

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No actively recruiting trials found for OBSOLETE: Radial hemimelia, unilateral at this time.

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No specialists are currently listed for OBSOLETE: Radial hemimelia, unilateral.

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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 OBSOLETE: Radial hemimelia, unilateral.

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Community

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Caregiver Resources

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

Mental Health Support

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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.Is my child's radial hemimelia isolated, or could it be part of a syndrome?,What additional tests should be done to check for associated conditions like heart defects or blood disorders?,When is the best time to consider surgery, and what procedures do you recommend?,How can we maximize hand function through therapy and splinting?,Will my child need additional surgeries as they grow?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,Are there any activity restrictions my child should follow?

Common questions about OBSOLETE: Radial hemimelia, unilateral

What is OBSOLETE: Radial hemimelia, unilateral?

Radial hemimelia, also known as radial ray deficiency or radial club hand, is a condition present at birth where the radius bone (the bone on the thumb side of the forearm) is partially or completely missing on one side of the body (unilateral). This condition affects how the hand, wrist, and forearm develop. Children born with this condition may have a shorter forearm, a wrist that curves inward toward the thumb side, and the thumb may be small, underdeveloped, or completely absent. The fingers may also be affected. The term 'OBSOLETE' in the Orphanet classification means this specific entry

At what age does OBSOLETE: Radial hemimelia, unilateral typically begin?

Typical onset of OBSOLETE: Radial hemimelia, unilateral is neonatal. Age of onset can vary across affected individuals.