Tibial Hemimelia (TH) is a congenital defect that results in a missing, shortened, or underdeveloped tibia. The fibula is the primary bone present in the lower leg. Ankle and foot deformities, including missing toes, are typical. The foot is normally flipped up and inward. If it affects both legs it is called bilateral tibial hemimelia. The condition is extremely rare, affecting about 1-in-a-million. It is thought to have genetic causes (e.g. Gollop-Wolfgang syndrome, Werner’s syndrome, etc.).
The default treatment for the condition is amputation of the affected limbs followed by prosthetic use. Dr. Dror Paley of the Paley Institute has pioneered efforts to save these limbs from amputation. Most of the time amputation is not the only treatment option available.
TH presents in many unique ways which affect the potential for limb salvage. It is difficult for parents of children with TH to make sense the options available. See the Treatment Options for Tibial Hemimelia for a discussion on the issues that go into making a decision on how to treat TH. This is written from the perspective of a parent who has gone through the process.
For an example walk through the journey of diagnosis and treatment for the condition see the Illustrated Guide to Bilaterial Tibial Hemimelia following Lulu Ramsey’s journey to walk on two feet.