Non-syndromic limb overgrowth

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ORPHA:294953
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Overview

Non-syndromic limb overgrowth is a rare condition in which one or more limbs grow larger than normal without other body systems being affected. The term 'non-syndromic' means that the overgrowth happens on its own and is not part of a broader syndrome that involves other organs or developmental differences. The overgrowth can affect bones, soft tissues, or both, leading to a noticeable difference in size between the affected limb and the rest of the body. This condition is sometimes also referred to as isolated limb overgrowth or isolated hemihyperplasia when it affects one side of the body. Symptoms typically become apparent at birth or during early childhood as the affected limb grows faster or larger than expected. The degree of overgrowth can range from mild, barely noticeable differences to significant asymmetry that affects walking, posture, and daily activities. In some cases, the leg length difference can cause back pain or gait problems over time. Treatment depends on the severity of the overgrowth. Mild cases may only need monitoring, while more significant differences may require orthopedic interventions such as shoe lifts, epiphysiodesis (a procedure to slow growth in the longer limb), or other surgical corrections. Physical therapy can also help with mobility and strength. Because some forms of limb overgrowth carry a slightly increased risk of certain tumors, regular screening may be recommended. The condition is not life-threatening, but ongoing management is important for quality of life.

Key symptoms:

One arm or leg noticeably larger than the otherUnequal leg lengthsAsymmetry in limb circumference or girthDifficulty walking or abnormal gaitBack pain due to leg length differenceEnlarged fingers or toes on the affected limbScoliosis or spinal curvature from uneven leg lengthsSoft tissue swelling in the affected limbIncreased bone length on one sideShoe fitting problems due to foot size differenceJoint pain or discomfort in the affected limb

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 Non-syndromic limb overgrowth.

View clinical trials →

No actively recruiting trials found for Non-syndromic limb overgrowth at this time.

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

Search ClinicalTrials.gov ↗Join the Non-syndromic limb overgrowth community →

No specialists are currently listed for Non-syndromic limb overgrowth.

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 Non-syndromic limb overgrowth.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Non-syndromic limb overgrowth

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Caregiver Resources

NORD Caregiver Resources

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.How severe is the limb overgrowth, and is it expected to get worse as my child grows?,Should we pursue genetic testing, and if so, what type of testing is recommended?,Does my child need tumor screening, and how often should it be done?,What treatment options are available now, and when might surgery be considered?,Are there any clinical trials or emerging therapies that might be appropriate?,How can we best support my child's mobility and physical development?,Should we be concerned about any other health complications related to this condition?

Common questions about Non-syndromic limb overgrowth

What is Non-syndromic limb overgrowth?

Non-syndromic limb overgrowth is a rare condition in which one or more limbs grow larger than normal without other body systems being affected. The term 'non-syndromic' means that the overgrowth happens on its own and is not part of a broader syndrome that involves other organs or developmental differences. The overgrowth can affect bones, soft tissues, or both, leading to a noticeable difference in size between the affected limb and the rest of the body. This condition is sometimes also referred to as isolated limb overgrowth or isolated hemihyperplasia when it affects one side of the body.

At what age does Non-syndromic limb overgrowth typically begin?

Typical onset of Non-syndromic limb overgrowth is neonatal. Age of onset can vary across affected individuals.