OBSOLETE: Madelung deformity, unilateral

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ORPHA:295221
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Overview

Madelung deformity is a condition that affects the wrist and forearm. It involves abnormal growth of the lower end of the radius bone (one of the two bones in the forearm), which leads to a visible deformity of the wrist. In this condition, the growth plate on the inner (thumb) side of the radius closes too early, while the outer side continues to grow. This causes the radius to become curved and shortened, and the ulna bone (the other forearm bone) appears to stick out prominently on the back of the wrist. The term 'unilateral' means the condition affects only one wrist rather than both. People with Madelung deformity typically notice a gradually worsening bump on the back of the wrist, limited wrist motion (especially turning the hand palm-up), pain with gripping or twisting motions, and reduced grip strength. The deformity usually becomes noticeable during adolescence, particularly in girls, as it tends to worsen during growth spurts. Note that this Orphanet entry is marked as 'OBSOLETE,' meaning it has been retired or merged into a broader classification. Madelung deformity can occur as an isolated finding or as part of genetic syndromes such as Léri-Weill dyschondrosteosis, which is caused by changes in the SHOX gene. Treatment ranges from observation and physical therapy for mild cases to surgical correction for more severe deformity or significant pain. Surgery may involve removing a portion of bone, realigning the radius, or addressing the prominent ulna.

Key symptoms:

Visible bump or prominence on the back of the wristCurved or bowed forearmWrist pain, especially with gripping or twistingLimited wrist movementDifficulty turning the palm upwardReduced grip strengthOne forearm appearing shorter than the otherWrist stiffnessPain that worsens with physical activityCosmetic concern about wrist appearanceShort stature (when part of a syndrome)

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Juvenile

Begins in the teen years

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Madelung deformity, unilateral.

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No actively recruiting trials found for OBSOLETE: Madelung deformity, unilateral at this time.

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No specialists are currently listed for OBSOLETE: Madelung deformity, 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: Madelung deformity, unilateral.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my Madelung deformity isolated, or could it be part of a genetic syndrome like Léri-Weill dyschondrosteosis?,Should I or my child have genetic testing for SHOX gene changes?,How severe is the deformity, and is it likely to get worse?,What are the surgical options, and when is the best time to consider surgery?,Are there exercises or therapies that can help maintain wrist function?,Should other family members be evaluated for this condition?,What activities should be avoided to prevent worsening pain or deformity?

Common questions about OBSOLETE: Madelung deformity, unilateral

What is OBSOLETE: Madelung deformity, unilateral?

Madelung deformity is a condition that affects the wrist and forearm. It involves abnormal growth of the lower end of the radius bone (one of the two bones in the forearm), which leads to a visible deformity of the wrist. In this condition, the growth plate on the inner (thumb) side of the radius closes too early, while the outer side continues to grow. This causes the radius to become curved and shortened, and the ulna bone (the other forearm bone) appears to stick out prominently on the back of the wrist. The term 'unilateral' means the condition affects only one wrist rather than both. Peo

At what age does OBSOLETE: Madelung deformity, unilateral typically begin?

Typical onset of OBSOLETE: Madelung deformity, unilateral is juvenile. Age of onset can vary across affected individuals.