Overview
Congenital pseudoarthrosis of the tibia (CPT) is a rare bone condition that is present at birth or develops in early childhood. The word 'pseudoarthrosis' means 'false joint,' which describes what happens when the shinbone (tibia) fails to heal properly after a fracture, creating an abnormal movable segment where solid bone should be. In CPT, the tibia — the main weight-bearing bone in the lower leg — is weakened, often bowed or curved, and prone to breaking. Once a fracture occurs, the bone struggles to heal on its own, leading to a gap or non-union at the fracture site. CPT most commonly affects one leg and is frequently associated with neurofibromatosis type 1 (NF1), a genetic condition that affects how cells grow. About half or more of children with CPT also have NF1. However, CPT can also occur on its own or in association with other conditions. Symptoms typically include bowing of the lower leg noticed in infancy, fractures that do not heal, leg length differences, and difficulty walking. Treatment is primarily surgical and remains one of the most challenging problems in pediatric orthopedics. Options include bone grafting, internal fixation with rods, and the use of external fixation devices such as the Ilizarov frame to gradually encourage bone healing and correct deformity. In severe cases that do not respond to multiple surgeries, amputation may be considered. Newer approaches using bone morphogenetic proteins and vascularized bone grafts have improved outcomes, but achieving lasting bone union remains difficult for many patients.
Also known as:
Key symptoms:
Bowing or curving of the lower leg, usually noticed in infancyFracture of the shinbone that does not healA false joint or abnormal movement at the fracture siteOne leg shorter than the otherDifficulty walking or bearing weight on the affected legThinning or narrowing of the shinbone visible on X-rayPain in the lower legLimping or abnormal gaitSwelling at the fracture siteAnkle stiffness or deformitySkin changes such as café-au-lait spots if NF1 is presentRecurrent fractures after surgical repair
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventNovadip Biosciences — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Congenital pseudoarthrosis of the tibia.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Congenital pseudoarthrosis of the tibia.
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 tibia.
Community
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Start the conversation →Latest news about Congenital pseudoarthrosis of the tibia
Disease timeline:
New recruiting trial: A Study to Assess How Effective and Safe NVD003 is for Treating Patients With Congenital Pseudarthrosis of the Tibia.
A new clinical trial is recruiting patients for Congenital pseudoarthrosis of the tibia
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.What type and severity of congenital pseudoarthrosis does my child have, and what does this mean for treatment?,Should my child be tested for neurofibromatosis type 1?,What surgical approach do you recommend, and what is your experience with treating CPT?,What are the chances of achieving bone union, and what is the risk of the fracture coming back?,What activities should my child avoid, and what can they safely do?,At what point would amputation be considered, and what would function look like with a prosthesis?,Are there any clinical trials or newer treatments that might be appropriate for my child?
Common questions about Congenital pseudoarthrosis of the tibia
What is Congenital pseudoarthrosis of the tibia?
Congenital pseudoarthrosis of the tibia (CPT) is a rare bone condition that is present at birth or develops in early childhood. The word 'pseudoarthrosis' means 'false joint,' which describes what happens when the shinbone (tibia) fails to heal properly after a fracture, creating an abnormal movable segment where solid bone should be. In CPT, the tibia — the main weight-bearing bone in the lower leg — is weakened, often bowed or curved, and prone to breaking. Once a fracture occurs, the bone struggles to heal on its own, leading to a gap or non-union at the fracture site. CPT most commonly af
At what age does Congenital pseudoarthrosis of the tibia typically begin?
Typical onset of Congenital pseudoarthrosis of the tibia is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Congenital pseudoarthrosis of the tibia?
Yes — 1 recruiting clinical trial is currently listed for Congenital pseudoarthrosis of the tibia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.