Proximal femoral focal deficiency

Proximal femoral focal deficiency
Other names	Congenital Femoral Deficiency
13-year-old girl with PFFD
Specialty	Medical genetics

Proximal femoral focal deficiency (PFFD), also known as Congenital Femoral Deficiency (CFD),^[1] is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The disorder may affect one side or both, with the hip being deformed and the leg shortened.

It is commonly linked with the absence or shortening of a leg bone (fibular hemimelia) and the absence of a kneecap. Other linked birth defects include the dislocation or instability of the joint between the femur and the kneecap, a shortened tibia or fibula, and foot deformities.