Hypoplastic tibiae-postaxial polydactyly syndrome

Hypoplastic tibiae-postaxial polydactyly syndrome is an extremely rare genetic condition that affects the development of the bones in the lower legs and the fingers or toes. The name describes its two main features: hypoplastic tibiae, meaning the shinbones (tibiae) are underdeveloped or abnormally small, and postaxial polydactyly, meaning there are extra fingers or toes on the outer (pinky) side of the hands or feet. This condition is present at birth and can significantly affect how a child's legs develop and function. Because the shinbones are underdeveloped, children with this syndrome may have shortened or bowed lower legs, which can lead to difficulty walking and problems with mobility. The extra digits may vary in size and function — some may be fully formed while others may be small skin tags. Other skeletal abnormalities may also be present in some cases. Due to the extreme rarity of this condition, there is no specific cure. Treatment is focused on managing symptoms and improving quality of life. Orthopedic surgery may be needed to address leg length differences, correct bowing of the legs, or remove extra digits. Physical therapy and assistive devices such as braces or prosthetics may help with mobility. A team of specialists typically works together to create a personalized care plan for each affected individual.

Bring these to your next appointment

• Q1.How severe is the underdevelopment of my child's shinbones, and what does that mean for walking?,Will my child need surgery, and if so, how many procedures might be expected over time?,What physical therapy or rehabilitation will be needed?,Should we pursue genetic testing, and what might it tell us?,What assistive devices or braces would help my child the most?,Is there a risk of this condition occurring in future pregnancies?,Are there any clinical trials or research studies we should know about?

Common questions about Hypoplastic tibiae-postaxial polydactyly syndrome