OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

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ORPHA:480773
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Overview

Fibular aplasia-tibial campomelia-oligosyndactyly syndrome is a very rare condition that affects the development of the legs and feet before birth. The name describes the main features: 'fibular aplasia' means the fibula (the smaller of the two lower leg bones) is missing or severely underdeveloped; 'tibial campomelia' means the tibia (the main shin bone) is abnormally curved or bent; and 'oligosyndactyly' means there are fewer fingers or toes than usual, and some of them may be fused together. This condition is listed in Orphanet under the code 480773 and is currently marked as 'obsolete,' meaning it may have been reclassified or merged with a related diagnosis. Because the bones of the lower legs do not form correctly, children born with this syndrome typically have significant differences in the shape and function of their legs and feet. Walking and mobility are often affected. The hands may also show fewer or fused fingers. Treatment focuses on managing the physical differences through orthopedic surgery, prosthetics, physical therapy, and supportive care. There is no cure, and care is tailored to each child's specific needs. Due to the extreme rarity and the 'obsolete' classification, medical literature on this exact syndrome is very limited.

Key symptoms:

Missing or very underdeveloped fibula (smaller lower leg bone)Abnormally curved or bent shin bone (tibia)Fewer toes or fingers than usualFused toes or fingers (syndactyly)Shortened or abnormally shaped lower legsDifficulty walking or inability to walk without supportFoot deformities such as clubfootLeg length differences between the two sidesAbnormal gait or walking pattern

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome.

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No actively recruiting trials found for OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome community →

No specialists are currently listed for OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome.

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 OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome.

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Community

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Latest news about OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is this diagnosis still considered accurate, or has it been reclassified under a different name?,Should we have genetic testing done, and what might it tell us about the cause?,What is the recommended surgical plan, and at what ages should procedures happen?,What type of prosthetic or orthotic device would be most helpful for my child?,Are there physical therapy programs specifically designed for children with limb differences?,What should we watch for as warning signs that something needs urgent medical attention?,Are there any patient support groups or family networks for conditions like this?

Common questions about OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

What is OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome?

Fibular aplasia-tibial campomelia-oligosyndactyly syndrome is a very rare condition that affects the development of the legs and feet before birth. The name describes the main features: 'fibular aplasia' means the fibula (the smaller of the two lower leg bones) is missing or severely underdeveloped; 'tibial campomelia' means the tibia (the main shin bone) is abnormally curved or bent; and 'oligosyndactyly' means there are fewer fingers or toes than usual, and some of them may be fused together. This condition is listed in Orphanet under the code 480773 and is currently marked as 'obsolete,' me

How is OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome inherited?

OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome typically begin?

Typical onset of OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome is neonatal. Age of onset can vary across affected individuals.