Fuhrmann syndrome

Fuhrmann syndrome is a rare condition that affects the bones in the legs and the formation of fingers and toes. It is mainly characterized by bowing of the femora (thigh bones) and issues with the fibulae (calf bones), which may be underdeveloped or missing. Additionally, people with this condition may have differences in their digits, such as extra, missing, or fused fingers or toes. The condition is linked to changes in the WNT7A gene, which plays an important role in bone and limb development. The challenges seen in Fuhrmann syndrome can vary from person to person, and the overall experience of the condition is still being understood by researchers.

People with Fuhrmann syndrome often show bending of the thigh bones along with underdevelopment or absence of the calf bones. They may also experience digital anomalies, which can include having extra, fewer, or fused digits in the hands and feet.

Fuhrmann syndrome is caused by changes in the WNT7A gene. This gene is important for proper bone and limb development. The genetic alteration affects how bones form and grow, leading to the skeletal differences observed in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.