© Paley Foundation 2017
Tibial hemimelia is a rare congenital disorder that affects the development of the lower leg. It is characterized by the partial or complete absence of the tibia (the larger bone in the lower leg) along with associated anomalies of the knee, ankle, and foot. It can affect one or both legs. The severity of the condition can vary widely, ranging from mild shortening of the tibia to complete absence of the bone, along with significant limb length discrepancy. This disorder can be diagnosed during prenatal ultrasound examinations or shortly after birth based on physical examination and imaging studies such as X-rays or MRI scans.
Causes:
The exact cause of tibial hemimelia is not fully understood. It is believed to be a result of genetic and environmental factors interacting during early fetal development. While the condition can occur sporadically, there may also be a genetic predisposition in some cases.
Symptoms:
The symptoms of tibial hemimelia can vary depending on the severity of the condition. Common signs and symptoms may include:
Shortening of the affected leg.
Deformities of the knee, ankle, or foot.
Limited range of motion in the affected limb.
Differences in leg length.
Difficulty walking or bearing weight on the affected leg.
Depending on the severity some common treatments include:
Limb reconstruction surgeries to correct skeletal deformities and improve function.
Limb lengthening procedures to address leg length inequality.
Orthotic devices or prosthetics to support mobility and ability to walk.
Physical therapy to improve strength, flexibility, and coordination.
Living with tibial hemimelia can present challenges for affected individuals and their families whether that be physical limitations or emotional adjustments. However, with appropriate treatment and support, many individuals with tibial hemimelia lead fulfilling lives and are able to do almost anything.