Overview
Tibial hemimelia, unilateral, is a rare congenital limb deficiency in which the tibia (the larger bone of the lower leg, also called the shinbone) is partially or completely absent on one side of the body. This condition is present at birth and affects how the lower leg and foot develop. Because the tibia plays a critical role in supporting body weight and forming the knee and ankle joints, its absence leads to significant shortening of the affected leg, instability of the knee and ankle, and abnormal foot positioning. The foot on the affected side may be turned inward or may have missing toes. The knee joint may be poorly formed or unstable. In unilateral tibial hemimelia, only one leg is affected, while the other leg develops normally. The severity of this condition varies widely. Some children have a small portion of the tibia missing, while others are missing the entire bone. Treatment depends on the degree of tibial deficiency and the function of the knee and ankle joints. Options range from reconstructive surgery to lengthen or stabilize the limb, to amputation followed by prosthetic fitting when reconstruction is not feasible. Early evaluation by a pediatric orthopedic surgeon is essential to plan the best approach. With appropriate treatment, many children achieve good mobility and can participate in daily activities, though ongoing orthopedic care is typically needed throughout growth.
Also known as:
Key symptoms:
Shortened lower leg on one sideAbsent or underdeveloped shinbone (tibia)Unstable or poorly formed knee jointFoot turned inward (clubfoot-like deformity)Missing toes on the affected footLeg length difference between the two sidesDifficulty bearing weight on the affected legAbnormal ankle jointBowing of the remaining lower leg bone (fibula)Limited range of motion at the knee or ankle
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 OBSOLETE: Tibial hemimelia, unilateral.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Tibial hemimelia, unilateral.
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: Tibial hemimelia, unilateral.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.How severe is my child's tibial hemimelia, and how much of the tibia is present?,Is reconstructive surgery or amputation with prosthetic fitting the better option for my child?,How many surgeries might my child need as they grow?,What kind of mobility and function can we expect after treatment?,Should we pursue genetic testing to look for an underlying cause or syndrome?,What physical therapy and rehabilitation will my child need?,Are there other children or families with this condition we can connect with for support?
Common questions about OBSOLETE: Tibial hemimelia, unilateral
What is OBSOLETE: Tibial hemimelia, unilateral?
Tibial hemimelia, unilateral, is a rare congenital limb deficiency in which the tibia (the larger bone of the lower leg, also called the shinbone) is partially or completely absent on one side of the body. This condition is present at birth and affects how the lower leg and foot develop. Because the tibia plays a critical role in supporting body weight and forming the knee and ankle joints, its absence leads to significant shortening of the affected leg, instability of the knee and ankle, and abnormal foot positioning. The foot on the affected side may be turned inward or may have missing toes
At what age does OBSOLETE: Tibial hemimelia, unilateral typically begin?
Typical onset of OBSOLETE: Tibial hemimelia, unilateral is neonatal. Age of onset can vary across affected individuals.