Tibial Hemimelia
When a child is born with a portion or all of the tibia (shin bone) missing.
Understanding Tibial Hemimelia
Tibial hemimelia is a condition in which a child is born with a portion or all of the tibia (shin bone) missing. It is very rare, occurring in only one in 1 million births.
Signs and Symptoms
Tibial hemimelia is usually characterized by a shortened leg on the affected side with the foot turned inwards. Severe cases may be detected before birth. Less severe cases may be noticed as a child grows, and a leg length discrepancy becomes apparent.
Approximately 30 percent of cases affect both legs and may involve additional arm or hip differences. Depending on the severity of the case there may also be knee and ankle differences and joint instability.
Treatment
A specialized plan of care is based on the child’s growth, needs, and goals. The primary goal of treatment is for the child to have a functional limb that is equal in length to the sound side leg at full maturity.
Most cases of tibial hemimelia require some form of surgical intervention. The most common surgical interventions include limb amputation and/or limb reconstruction with lengthening.
Prosthetic and orthotic interventions aim to reduce instability and create a functional limb. Treatment options may include a shoe lift, an orthosis (brace), or a prosthesis (artificial limb). Milder cases may be managed with a shoe lift to correct a leg length discrepancy. Bracing may also be prescribed to stabilize joints or improve mobility. In more severe cases, a prosthetic leg may be the most functional option. All bracing or prosthetic treatment should help a child work towards age-appropriate goals. A prosthesis is typically fit when a child begins to pull to stand at around 8-10 months old.
Large length discrepancies, joint defects, and muscle contractures left untreated can greatly impact your child’s ability to achieve functional goals and level of independence.
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