Overview
Congenital pseudoarthrosis of the fibula is a very rare bone condition that is present at birth. The fibula is the thinner bone on the outer side of the lower leg, running alongside the larger shinbone (tibia). In this condition, the fibula fails to form properly and develops a "false joint" (pseudoarthrosis), meaning there is an abnormal gap or area of non-union in the bone where it should be continuous and solid. This can lead to instability of the ankle, deformity of the lower leg, and difficulty with walking and weight-bearing activities. Children with this condition may be noticed to have a bowing or angulation of the lower leg, ankle instability, or a limp. The condition can sometimes be associated with neurofibromatosis type 1 (NF1), a genetic disorder that affects how nerve tissue grows. However, congenital pseudoarthrosis of the fibula can also occur on its own without any associated syndrome. Treatment is primarily surgical and aims to stabilize the ankle joint and correct any deformity. Options may include bone grafting, internal fixation with plates or rods, and in some cases bracing. The condition is much rarer than congenital pseudoarthrosis of the tibia, and management often requires a team of specialists experienced in complex pediatric orthopedic problems. Early diagnosis and treatment are important to prevent progressive deformity and to support normal walking development.
Also known as:
Key symptoms:
Bowing or angulation of the lower legAnkle instability or loosenessLimping or abnormal walking patternPain in the lower leg or ankle areaShortening of the affected legDifficulty bearing weight on the affected legVisible deformity of the lower legSwelling near the ankleReduced range of motion at the ankleFrequent ankle sprains or giving way
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 fibula.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital pseudoarthrosis of the fibula at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital pseudoarthrosis of the fibula.
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 fibula.
Community
No community posts yet. Be the first to share your experience with Congenital pseudoarthrosis of the fibula.
Start the conversation →Latest news about Congenital pseudoarthrosis of the fibula
No recent news articles for Congenital pseudoarthrosis of the fibula.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 associated with neurofibromatosis type 1, and should we do genetic testing?,What surgical options are available, and what are the risks and expected outcomes?,Will my child need more than one surgery over time?,What kind of bracing or physical therapy will be needed?,How will this condition affect my child's growth and leg length as they get older?,Are there any activities my child should avoid?,What signs should I watch for that would mean we need to come back sooner than planned?
Common questions about Congenital pseudoarthrosis of the fibula
What is Congenital pseudoarthrosis of the fibula?
Congenital pseudoarthrosis of the fibula is a very rare bone condition that is present at birth. The fibula is the thinner bone on the outer side of the lower leg, running alongside the larger shinbone (tibia). In this condition, the fibula fails to form properly and develops a "false joint" (pseudoarthrosis), meaning there is an abnormal gap or area of non-union in the bone where it should be continuous and solid. This can lead to instability of the ankle, deformity of the lower leg, and difficulty with walking and weight-bearing activities. Children with this condition may be noticed to hav
At what age does Congenital pseudoarthrosis of the fibula typically begin?
Typical onset of Congenital pseudoarthrosis of the fibula is neonatal. Age of onset can vary across affected individuals.