Congenital Femoral Deficiency

Also known as: CFD, congenital short femur, proximal femoral focal deficiency.

What is congenital femoral deficiency?

The femur is the upper leg bone that connects the knee to the hip. In some children, a birth defect causes the femur to be shorter than it should be. This lead to other developmental issues, such as deformity and instability of the hip and knee. Congenital femoral deficiency typically impacts just one femur, though it can affect both.

What causes congenital femoral deficiency?

In many cases, the cause of congenital femoral deficiency is unknown. Contributing factors can include genetic abnormalities, exposure to drugs, chemical or viruses in utero and other medical conditions.

What are the symptoms of congenital femoral deficiency?

The short femur often leads to a knee or hip that is unstable, which leads to problems with walking and movement. The condition can present visible symptoms such as a shortened femur, or one that is flexed or rotated at an unusual angle. It is often accompanied by other issues, such as lower leg disorders, foot abnormalities, and joint instabilities.

What are congenital femoral deficiency care options?

Treatment for congenital femoral deficiency can vary widely depending on the severity of the condition. For minor cases, observation, exercises and physical therapy may be appropriate.

In more severe instances where mobility is greatly impacted, the child may require a limb lengthening procedure that gradually stretches the limb over time to help it match the other limb. Other children may require prosthetic legs, joints or feet in order to move properly as they age.

Additional procedures that are sometimes necessary include knee arthrodesis, hip stabilization, hip/pelvic osteotomy and others.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: October 14, 2020 01:48 PM

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