Pin It Many people haven't even heard of Congenital Femoral Deficiency- some may refer to it as PFFD or Proximal Femoral Focal Deficiency.
In my own words...it is an extremely rare birth defect that affects the hip bone and femur growth. It occurs in 1 and 50,000 births. It is not a genetic and the cause of it (as far as I know) is unknown.
In a nut shell, Rory's hip bone and proximal femur are not developing normally. Her hip bone is not complete in place, she has a hip bone and it is growing quite well but it is not fully in the socket.
Her right femur is also not growing at the same rate as her left femur. It looks like her leg keeps getting smaller, when actually her left leg is just growing at a faster rate.
Here is the definition from Dr. Paley's website:
Congenital Femoral Deficiency (also known as PFFD: Proximal Femoral Focal Deficiency) – leads to a congenitally short femur with different degrees of lack of formation of the hip and knee joints. In the mildest cases the hip and knee are properly formed and only the femur is short. In more severe cases the hip is severely deformed, the knee is unstable or has a flexion contracture and the femur is short. In the most severe cases there is either no connection between the femoral head and the femoral shaft or there is no hip joint at all and the knee is not only contracted but also stiff (limited in its motion). The treatment for cases with a well-formed femur is lengthening. For the more severe deformity, thesuperhip and superknee procedures are used to reconstruct the hip and knee before lengthening. If there is a true pseudarthrosis (false joint) thesuperhip 2 procedure is used to build a femoral neck and connect the femoral shaft with the femoral head. Finally in the most severe cases Symes amputation and Rotationplasty should be considered.
*I apoligize to all the doctors out there cringing while reading this if I have butchered the scientific terminology with my common everyday terms :)