Congenital absence of thigh and lower leg with foot present Save

Congenital absence of thigh and lower leg with foot present

Congenital absence of thigh and lower leg with foot present is a rare birth defect that affects the development of the lower limbs during pregnancy. This condition is also known as PFFD (proximal femoral focal deficiency) or CPT (congenital pseudarthrosis of the tibia). It occurs when the thigh bone (femur) or the shin bone (tibia) fails to develop properly in the womb, leading to a shortened leg with a foot that is present.

Individuals with this condition may have a shorter leg or a leg that is completely absent. They may also experience hip and knee joint problems, as well as foot and ankle problems due to the malformation of the bones in the leg.

While the exact cause of this condition is unknown, it is believed to be a combination of genetic and environmental factors. There is no known cure for congenital absence of thigh and lower leg with foot present, but treatment options are available to help improve mobility and quality of life.

1. Prosthetics: Prosthetic devices can be used to replace the missing limb and improve mobility. These devices can be custom-made to fit the individual's specific needs and can range from simple foot prostheses to more complex leg prostheses.
2. Surgery: Surgery may be recommended to correct any joint problems or to lengthen the shortened limb. This may involve bone grafts or the use of an external fixator that gradually stretches the bone.
3. Physical therapy: Physical therapy can help improve range of motion and strengthen the muscles in the affected leg. This can also help prevent joint problems from worsening over time.

Living with congenital absence of thigh and lower leg with foot present can be challenging, but with the right treatment and support, individuals with this condition can lead fulfilling lives. It is important to work closely with a healthcare team to develop a personalized treatment plan that addresses the individual's unique needs and goals.

If you or a loved one has been diagnosed with congenital absence of thigh and lower leg with foot present, speak with a healthcare provider to learn more about treatment options and support resources available.