Congenital Limb Deficiencies

Description: Complete or partial absence of a limb occurring during fetal development in utero.

My Approach

Congenital Femoral Deficiency (CFD) also known as Proximal Femoral Focal Deficiency (PFFD) is a rare hip disorder that we at the Paley Institute specialize in treating and depending on the type of CFD that determines the exact management.  The approach Is not just a wait and see one.  We are able to predict the limb length difference at maturity and then create a life plan for the child which includes a preparatory surgery by age three and then limb lengthening planned and performed starting at approximately age 5.

More Information on Congenital Limb Deficiencies

CFD  is a rare disorder that presents in infancy in only one of 40,000 to 50,000 birth.   The effected limb is often very short and with a hip that is quite deformed.   At times it involves both hips.  Untreated the lower extremity can be as much as 15 inches short with a hip that does not function well.

At the Paley Institute, we treat a great number of CFD patients.  There are essentially four types with the first three in increasing severity and the fourth involving the knee.  Treatment often includes an extensive SUPER hip operation that treats the deformity of the hip and then lengthening of the thigh and leg, at a later date.  This surgery should only be performed by surgeons who perform this surgery regularly as it is quite complicated and if it done with appropriate support from physical therapists familiar with the disease has a risk of significant failure.  With appropriate treatment, the lower extremity can often be made quite functional with no prosthesis or amputation needed.  The leg often has involvement as well with another congenital deficiency called fibular hemimelia which is discussed in another section.


Congenital Femoral Deficiency has no known cause and is not passed on genetically.

Diagnosis Methods

The diagnosis of CFD can be made by plain x-rays and often to determine the exact type an MRI is required.


CFD requires treatment first just to place in an special orthotic as the child becomes of walking age at about a year.  Physical therapy for stretching is not needed as the deformity is a structural one and cannot be stretched or strengthened.

The first surgery in all Type 1, 2 and 3 is to prepare the hip and femur for lengthening at a later date.  The surgery entails realigning the often severe deformity of the hip and placing a plate on the femur.  Often the socket is deepened at that time.  The knee is often straightened and stabilized with ligaments,  if needed. The child heals over a six to 8 week period and one to three years later we incrementally lengthen the femur.  This is the most complicated of all lengthening procedures because the knee and hip need to be protected with physical therapy, bracing and often external fixation.  Depending on the limb length discrepancy prediction, we determine the number of lengthening procedures needed to equalize the limb.   The first lengthening is usually never more than 5 cm (2inches).  The lengthening surgeries are usually spaced approximately three years apart. Lengthening may be with an external fixator or an internal lengthening rod, depending on the size of the child and the size of the femur.

The caveat to that is that in some Type 2 B and type 3 the child may be treated with a rotationplasty which turns the lower extremity 180 degrees and allows the ankle to act as a knee.  This is an uncommon procedure and although it sounds strange, often makes the patient quite functional with just one procedure as opposed to multiple lengthenings.

Overall, patients with CFD can be made quite functional and perform all activities in life.


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