Isolated tibio-fibular synostosis

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Overview

Isolated tibio-fibular synostosis is a rare bone condition in which the two bones of the lower leg — the tibia (shinbone) and the fibula (the thinner bone next to it) — are abnormally fused or joined together. This fusion can occur at the upper (proximal) end near the knee, or less commonly at the lower (distal) end near the ankle, or along the shaft of the bones. The condition is present from birth, though it may not be noticed until later in childhood or even adulthood, depending on the severity and location of the fusion. People with this condition may experience limited movement at the ankle or knee, leg pain, difficulty walking or running, and sometimes a noticeable difference in leg shape or length. In mild cases, the fusion may cause few or no symptoms and may be discovered incidentally on an X-ray taken for another reason. In more significant cases, the abnormal connection between the two bones can restrict normal motion and lead to discomfort during physical activity. Treatment depends on the severity of symptoms. Many mild cases require no treatment at all, while more symptomatic cases may benefit from physical therapy, pain management, or in some situations, surgical intervention to improve function. The condition is sometimes called tibiofibular synostosis and is classified under congenital limb anomalies. It is considered 'isolated' when it occurs on its own, without other skeletal or organ abnormalities.

Also known as:

Key symptoms:

Limited ankle movementPain in the lower leg during activityDifficulty walking or runningStiffness in the knee or ankle areaLeg length differenceAbnormal shape or appearance of the lower legSwelling near the area of bone fusionDifficulty with sports or physical activitiesLimping or altered walking patternKnee pain or discomfort

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated tibio-fibular synostosis.

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No actively recruiting trials found for Isolated tibio-fibular synostosis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Isolated tibio-fibular synostosis community →

No specialists are currently listed for Isolated tibio-fibular synostosis.

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 Isolated tibio-fibular synostosis.

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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.Where exactly is the fusion located in my child's leg, and how much does it affect movement?,Will this condition get worse as my child grows?,Is physical therapy recommended, and how often should sessions occur?,At what point would surgery be considered, and what are the risks and benefits?,Should we have genetic testing to check for any related conditions?,Are there any activities or sports my child should avoid?,How often should we schedule follow-up imaging or appointments?

Common questions about Isolated tibio-fibular synostosis

What is Isolated tibio-fibular synostosis?

Isolated tibio-fibular synostosis is a rare bone condition in which the two bones of the lower leg — the tibia (shinbone) and the fibula (the thinner bone next to it) — are abnormally fused or joined together. This fusion can occur at the upper (proximal) end near the knee, or less commonly at the lower (distal) end near the ankle, or along the shaft of the bones. The condition is present from birth, though it may not be noticed until later in childhood or even adulthood, depending on the severity and location of the fusion. People with this condition may experience limited movement at the an