Tibial hemimelia is a rare congenital condition characterized by the absence or underdevelopment of the tibia, which is one of the bones in the lower leg (the other being the fibula). The severity of tibial hemimelia can vary widely, from a slightly shorter tibia to complete absence of the bone. This condition can affect one leg (unilateral) or both legs (bilateral).

Symptoms and Characteristics

The symptoms and characteristics of tibial hemimelia can include:

• Partial or complete absence of the tibia.

• Presence of a shortened leg with knee and ankle deformities.

• Foot deformities, such as clubfoot (talipes equinovarus).

• Instability or absence of the knee joint.

• Potential for hip deformities and other lower limb anomalies.

Causes

The exact cause of tibial hemimelia is not well understood, but it is thought to occur due to a disruption in the developmental process during pregnancy. There is no single factor identified as the cause, but it may involve genetic and environmental components.

Diagnosis

Diagnosis of tibial hemimelia is often made through physical examination and imaging studies shortly after birth. X-rays are crucial for assessing the extent of the condition, including the presence and length of the tibia, as well as any associated abnormalities of the knee, ankle, and foot.

Treatment

Treatment of tibial hemimelia varies depending on the severity of the condition and can range from orthotic management to surgical intervention. Treatment options may include:

• Orthotic management: For milder cases, braces and other orthotic devices may help improve function and stability.

• Surgical treatment: Surgical options can be complex and may involve procedures to correct foot deformities, lengthen the leg, or, in severe cases, amputate the affected portion of the limb followed by fitting for a prosthesis. Limb reconstruction and lengthening procedures may be attempted in some cases, depending on the extent of the tibia's presence and the overall condition of the leg.

• Amputation and prosthetic fitting: In cases where the leg's functionality cannot be adequately improved through reconstructive surgery, amputation followed by prosthetic fitting may be considered to provide the individual with a higher level of mobility and function.

The decision regarding the most appropriate treatment plan is made on a case-by-case basis, taking into account the specific characteristics of the deformity, the child's overall health, and the family's preferences. Multidisciplinary care involving orthopedic surgeons, pediatricians, physical therapists, and other specialists is often required to address the complex needs of individuals with tibial hemimelia.