What are tibial defects?

Tibial defects are characterized by total or partial absence of the tibia (shin bone). Unlike fibular hemimelia, tibial defects can have genetic links. Tibial defects can also be accompanied by defects of the foot and thigh.

Tibial defects range from partial absence of the bone (i.e., tibial hypoplasia) to complete absence of the bone (i.e., tibial aplasia). In some cases, the knee can also be affected in differing degrees. Tibial hypoplasia is typically accompanied by knee joint dysplasia. In cases where the tibia is completely missing, there is no functional knee joint because the distal segment of the joint is missing. Tibial defects are also accompanied by poorly developed leg musculature.