OBSOLETE: Madelung deformity

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ORPHA:35688
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Overview

Madelung deformity is a condition that affects the wrist and forearm, causing the wrist to grow in an abnormal way. In this condition, the radius (one of the two bones in the forearm) grows more slowly than the ulna (the other forearm bone), which causes the wrist to tilt and the bones to become misaligned. This leads to a wrist that looks bowed or bent, and the hand may appear to shift toward the pinky-finger side. The condition is sometimes called dyschondrosteosis when it occurs alongside short stature as part of a broader syndrome known as Léri-Weill dyschondrosteosis. Most people with Madelung deformity notice symptoms during childhood or the teenage years, when bones are still growing. Common symptoms include wrist pain, limited range of motion, reduced grip strength, and a visible deformity of the wrist. The condition affects girls more often than boys. Treatment depends on how severe the deformity is and how much it affects daily life. Mild cases may be managed with pain relief and physical therapy. More severe cases may require surgery to correct the bone alignment and improve wrist function. It is worth noting that Orphanet has marked this specific entry as 'obsolete,' meaning the condition is now typically classified under related diagnoses such as Léri-Weill dyschondrosteosis.

Key symptoms:

Visible bowing or deformity of the wristWrist pain, especially with activityLimited ability to bend or rotate the wristReduced grip strengthThe hand appears shifted toward the pinky sideForearm appears shorter than usualSwelling around the wrist jointDifficulty with tasks that require wrist movement

Inheritance

X-linked dominant

Carried on the X chromosome; a single copy can cause the condition

Age of Onset

Juvenile

Begins in the teen years

Orphanet ↗NORD ↗

Treatments

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

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

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No specialists are currently listed for OBSOLETE: Madelung deformity.

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 OBSOLETE: Madelung deformity.

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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 wrist deformity related to a genetic condition like Léri-Weill dyschondrosteosis, and should I have genetic testing?,How severe is my deformity, and is it likely to get worse as I grow?,What are the pros and cons of surgery versus non-surgical treatment for my situation?,If surgery is recommended, what is the recovery time and what results can I realistically expect?,Should other family members be evaluated for this condition?,What activities should I avoid to protect my wrist?,How often do I need follow-up appointments to monitor my wrist?

Common questions about OBSOLETE: Madelung deformity

What is OBSOLETE: Madelung deformity?

Madelung deformity is a condition that affects the wrist and forearm, causing the wrist to grow in an abnormal way. In this condition, the radius (one of the two bones in the forearm) grows more slowly than the ulna (the other forearm bone), which causes the wrist to tilt and the bones to become misaligned. This leads to a wrist that looks bowed or bent, and the hand may appear to shift toward the pinky-finger side. The condition is sometimes called dyschondrosteosis when it occurs alongside short stature as part of a broader syndrome known as Léri-Weill dyschondrosteosis. Most people with Ma

How is OBSOLETE: Madelung deformity inherited?

OBSOLETE: Madelung deformity follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Madelung deformity typically begin?

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