Congenital Short Femur

Overview

Type of disease: Rare conditions

Congenital short femur is a very rare condition in which a child is born with a shorter, sometimes angled or malformed femur (thigh or upper leg bone) and potentially other problems with nearby bones such as the tibia and fibula. Congenital short femur can either be unilateral, meaning that only one femur is affected, or bilateral, affecting both.

The cause of this condition is not fully understood, and may be caused by a combination of genetics or exposure to trauma, certain chemicals and medications (such as Thalidomide), irradiation, or some infections while developing in the womb. There are five types of congenital short femur, with type 1 being the least severe and type 5 being the most severe. Signs vary depending on type, and can range from slight underdevelopment or angling to a completely missing or extremely small femur. In congenital short femur, the tibia (shin bone of lower leg) is also often affected and may be underdeveloped or completely missing. Additionally, bones in the feet, toes, knee, and upper limbs including the bones of the forearm, upper arm, and hands may be underdeveloped, malformed, or completely missing.

There is no cure for congenital short femur, but there are technologies available to improve the livelihood of those who are living with the condition including prosthetic limbs and other assistive devices (i.e. wheelchairs, walkers, etc.). If you or someone you know is diagnosed with this condition, contact your doctor to discuss the most current treatment options.

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