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
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome.
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 OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 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.