Congenital pseudoarthrosis of the radius

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Overview

Congenital pseudoarthrosis of the radius is an extremely rare bone condition that is present at birth. In this condition, the radius — one of the two long bones in the forearm — fails to form a proper bony connection, creating a "false joint" (pseudoarthrosis) where solid bone should exist. This means the bone is either not fully formed or has a gap that does not heal on its own, leading to instability, deformity, and reduced function of the affected forearm and wrist. Children with this condition typically show bowing or angulation of the forearm, limited movement at the wrist or elbow, and weakness in gripping or carrying objects. The affected arm may appear shorter or visibly different from the other side. Pain may or may not be present, but functional limitations are common. Congenital pseudoarthrosis of the radius is much rarer than the more well-known congenital pseudoarthrosis of the tibia (shinbone). In some cases, it may be associated with neurofibromatosis type 1 (NF1), a genetic condition that affects how bones and other tissues develop. Treatment is primarily surgical and aims to achieve bony union (healing of the gap), restore alignment, and improve function. Multiple surgeries may be needed, and outcomes can vary. Bone grafting, internal fixation with plates or rods, and sometimes the use of external fixation devices (like the Ilizarov frame) are among the approaches used. Supportive care includes physical therapy and occupational therapy to maximize arm function.

Also known as:

Key symptoms:

Bowing or angulation of the forearmForearm that appears shorter on the affected sideWeakness in the hand or wristDifficulty gripping or holding objectsLimited range of motion at the wrist or elbowVisible deformity of the forearmA gap or unstable area in the forearm bonePain in the forearm (in some cases)Reduced ability to rotate the forearm (turning palm up or down)Recurrent fractures at the site of the pseudoarthrosis

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 Congenital pseudoarthrosis of the radius.

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No actively recruiting trials found for Congenital pseudoarthrosis of the radius at this time.

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No specialists are currently listed for Congenital pseudoarthrosis of the radius.

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 Congenital pseudoarthrosis of the radius.

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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 child's condition associated with neurofibromatosis type 1, and should we do genetic testing?,What surgical approach do you recommend, and how many similar cases have you treated?,What is the likelihood that the bone will heal after surgery, and what happens if it doesn't?,How many surgeries might my child need over the course of childhood?,What physical therapy or occupational therapy will be needed after surgery?,Are there any activities my child should avoid to protect the arm?,What are the long-term expectations for arm function and appearance?

Common questions about Congenital pseudoarthrosis of the radius

What is Congenital pseudoarthrosis of the radius?

Congenital pseudoarthrosis of the radius is an extremely rare bone condition that is present at birth. In this condition, the radius — one of the two long bones in the forearm — fails to form a proper bony connection, creating a "false joint" (pseudoarthrosis) where solid bone should exist. This means the bone is either not fully formed or has a gap that does not heal on its own, leading to instability, deformity, and reduced function of the affected forearm and wrist. Children with this condition typically show bowing or angulation of the forearm, limited movement at the wrist or elbow, and

At what age does Congenital pseudoarthrosis of the radius typically begin?

Typical onset of Congenital pseudoarthrosis of the radius is neonatal. Age of onset can vary across affected individuals.