Overview
Congenital pseudoarthrosis of the ulna is an extremely rare bone condition that is present at birth. In this condition, the ulna — 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 never fully fuses or heals on its own, leading to instability, abnormal movement, and weakness in the affected forearm. Children with this condition typically show bowing or angulation of the forearm, reduced grip strength, limited range of motion at the elbow or wrist, and sometimes pain with use of the arm. The condition may be noticed at birth or become more apparent as the child grows and begins using their arms more actively. In some cases, the affected forearm may appear shorter than the other side. Congenital pseudoarthrosis of the ulna is often associated with neurofibromatosis type 1 (NF1), a genetic condition that affects how nerve tissue grows. However, it can also occur on its own without any underlying syndrome. Treatment is primarily surgical and aims to achieve bony union (healing of the bone 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 common surgical approaches. Despite treatment, achieving lasting bone healing can be challenging, and some patients may require repeated interventions.
Also known as:
Key symptoms:
Bowing or angulation of the forearmAbnormal movement at the site of the false jointWeakness in the affected armReduced grip strengthLimited range of motion in the elbow or wristForearm that appears shorter on the affected sidePain or discomfort with arm useDifficulty carrying or lifting objectsVisible deformity of the forearmFracture that does not heal properly
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital pseudoarthrosis of the ulna.
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Specialists
View all specialists →No specialists are currently listed for Congenital pseudoarthrosis of the ulna.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital pseudoarthrosis of the ulna.
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 surgeries might be needed?,What is the likelihood of achieving lasting bone healing with surgery?,What are the risks and potential complications of the recommended surgery?,How long will recovery take, and what rehabilitation will be needed afterward?,Are there any activity restrictions my child should follow before or after surgery?,Should we seek a second opinion from a center that specializes in this condition?
Common questions about Congenital pseudoarthrosis of the ulna
What is Congenital pseudoarthrosis of the ulna?
Congenital pseudoarthrosis of the ulna is an extremely rare bone condition that is present at birth. In this condition, the ulna — 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 never fully fuses or heals on its own, leading to instability, abnormal movement, and weakness in the affected forearm. Children with this condition typically show bowing or angulation of the forearm, reduced grip strength, limited range of motion at the elbow or wrist, and sometimes pain w
At what age does Congenital pseudoarthrosis of the ulna typically begin?
Typical onset of Congenital pseudoarthrosis of the ulna is neonatal. Age of onset can vary across affected individuals.