Congenital tibial deficiency is a rare condition characterized by partial to complete absence of the tibia, an intact but frequently overgrown fibula, variable degrees of knee deformity and function, and an abnormal equinovarus foot. It can occur in isolation but also presents concurrently with other orthopaedic anomalies and syndromic conditions. Among these, congenital abnormalities of the hand and femur are most commonly observed. Many theories exist regarding its etiology and some genetic mutations have been identified; however, the underlying mechanism remains unknown. The prognosis and treatment differ based on the clinical severity. The goal of treatment is always to create a stable, functional limb, most commonly with amputation and use of prosthetics. Controversy exists over the level of amputation and the usefulness of reconstructive procedures to preserve the foot and limb length. Current investigation on this complex disorder is focused on identifying its origins and further developing a classification-based treatment algorithm to improve patient outcomes.
From the Children's National Health System, Division or Orthopaedic Surgery and Sports Medicine, Washington, DC (Dr. Oetgen, Dr. Young), NYULMC Hospital for Joint Diseases, New York, NY (Dr. Litrenta), and Texas Scottish Rite Hospital for Children, Dallas, TX (Dr. Birch).
Dr. Oetgen or an immediate family member serves as a board member, owner, officer, or committee member of the American Academy of Orthopaedic Surgeons, the Pediatric Orthopaedic Society of North America, and the Scoliosis Research Society. Dr. Birch or an immediate family member has received royalties from Orthofix. Neither of the following authors nor any immediate family member has received anything of value from or has stock or stock options held in a commercial company or institution related directly or indirectly to the subject of this article: Dr. Litrenta and Dr. Young.