OBSOLETE: Tibial hemimelia, bilateral

Bilateral tibial hemimelia is a very rare birth defect affecting both legs. In this condition, the tibia — the larger of the two bones in the lower leg (the shinbone) — is partially or completely absent on both sides. Because the tibia is the main weight-bearing bone of the lower leg, its absence causes significant problems with leg length, alignment, and function. Babies born with this condition typically have noticeably shortened lower legs, feet that may be turned inward or positioned abnormally, and knee joints that do not form or function properly. The condition is present at birth and is usually detected immediately or during prenatal ultrasound. This entry is marked as 'obsolete' in the Orphanet classification, meaning it may have been reclassified or merged into a broader category of tibial hemimelia or limb deficiency disorders. Tibial hemimelia can occur as an isolated finding or as part of a broader syndrome. Treatment typically involves orthopedic surgery, which may include limb lengthening procedures, reconstructive surgery, or in some cases amputation followed by prosthetic fitting. The goal of treatment is to maximize mobility and independence. Early intervention with pediatric orthopedic specialists is essential for the best possible outcomes. Genetic counseling is recommended, as some forms of tibial hemimelia have a hereditary component.

Bring these to your next appointment

• Q1.What type and severity of tibial hemimelia does my child have in each leg?,What are the surgical options, and what is the recommended treatment plan?,Is amputation with prosthetics or limb reconstruction the better option for my child?,Should we pursue genetic testing to understand the cause?,What kind of mobility can we expect my child to achieve with treatment?,How many surgeries will likely be needed as my child grows?,Are there clinical trials or new treatments we should know about?

Common questions about OBSOLETE: Tibial hemimelia, bilateral