Overview
Congenital pseudoarthrosis of the femur is an extremely rare bone condition that is present at birth or develops in early childhood. In this condition, the thighbone (femur) fails to heal properly, creating a "false joint" (pseudoarthrosis) at the site of a fracture or abnormal bone. The word "pseudoarthrosis" literally means "false joint" — the bone behaves as if there is a joint where there should be solid, continuous bone. This leads to abnormal movement, instability, and weakness in the affected leg. Children with this condition typically present with bowing or angulation of the thigh, difficulty walking, leg length differences, and repeated fractures of the femur that do not heal normally. The condition can significantly affect a child's ability to walk and bear weight on the affected leg. Pain may or may not be present, but functional limitations are common. Treatment is primarily surgical and can be very challenging. Options include bone grafting, internal fixation with rods or plates, and the use of external fixation devices (such as the Ilizarov frame) to gradually correct the deformity and encourage bone healing. In some cases, vascularized bone grafts — where bone along with its blood supply is transplanted from another part of the body — may be used. Despite treatment, the condition has a tendency to recur, and multiple surgeries may be needed over a child's growing years. Some cases are associated with neurofibromatosis type 1 (NF1), a genetic condition that affects bone healing and other tissues. Early diagnosis and management by a specialized team are essential to achieve the best possible outcomes.
Also known as:
Key symptoms:
Bowing or angulation of the thighFractures of the thighbone that do not heal properlyLeg length difference (one leg shorter than the other)Difficulty walking or bearing weight on the affected legAbnormal movement at the fracture siteLimping or abnormal gaitWeakness in the affected legPain in the thigh areaInstability of the thighboneRecurrent fractures after treatmentDelayed walking milestones
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 femur.
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Specialists
View all specialists →No specialists are currently listed for Congenital pseudoarthrosis of the femur.
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 femur.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.Is my child's condition related to neurofibromatosis type 1, and should genetic testing be done?,What surgical approach do you recommend, and how many similar cases have you treated?,How many surgeries might my child need over their lifetime?,What is the likelihood of achieving solid bone healing with the proposed treatment?,What can we do to protect the bone and reduce the risk of re-fracture?,Will my child have a significant leg length difference, and how will it be managed?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Congenital pseudoarthrosis of the femur
What is Congenital pseudoarthrosis of the femur?
Congenital pseudoarthrosis of the femur is an extremely rare bone condition that is present at birth or develops in early childhood. In this condition, the thighbone (femur) fails to heal properly, creating a "false joint" (pseudoarthrosis) at the site of a fracture or abnormal bone. The word "pseudoarthrosis" literally means "false joint" — the bone behaves as if there is a joint where there should be solid, continuous bone. This leads to abnormal movement, instability, and weakness in the affected leg. Children with this condition typically present with bowing or angulation of the thigh, di
At what age does Congenital pseudoarthrosis of the femur typically begin?
Typical onset of Congenital pseudoarthrosis of the femur is neonatal. Age of onset can vary across affected individuals.