PFFD stands for Proximal Femoral Focal Deficiency, which describes the condition:

• Proximal - nearest the point of attachment or centre of the body
• Femoral - referring to the thigh bone (femur)
• Focal - a focus or starting point
• Deficiency - a lack; less than normal

Therefore, PFFD is when the end of the thighbone closest to the hip is too short or not completely developed.

PFFD is a congenital birth defect characterized by a failure of normal development of the proximal (upper) end of the femur (thigh bone). The iliofemoral joint (hip) may also be poorly developed. In as many as 70-80% of patients with PFFD, there are also fibular issues, where the fibula (the smaller lower leg bone) is either short or totally missing (FH). Therefore, the foot may also not be formed properly and the ankle is poor. PFFD is bilateral in 15% of cases.

The incidence of PFFD is between 1 in 50,000 to 1 in 200,000 births.

PFFD varies in severity from the mild case with a short femur but normal hip joint - to the more severe case where no hip joint is present. [Westin,1969] The condition may be unilateral (one leg) or bilateral (both legs).

PFFD is not genetic. It is thought to be caused by environmental factors in utero such as oxygen deficiency, hypothermia, chemicals, radiation, bacterial toxins, viral infections, enzyme and hormone changes.

If not picked up on ultrasound during pregnancy, diagnosis is usually possible on the first physical examination. The physical exam cannot determine the severity of the defect with accuracy, an X-ray or MRI will be required. In the first few months an X-ray will not display well as the hip is mostly cartilage. An MRI has the advantage of showing more structure and in 3-D.

The Pavlik harness

The Pavlik harness is usually suggested as the first stage in treatment (also used in treating Developmental dysplasia of the hip (DDH).

It is a harness made of canvas straps, velcro and buckles. It serves to keep the legs apart and at the correct angle. Doctors usually suggest that it will be used for six weeks. It may be longer. Regular physiotherapy sessions are required, to make sure the fit is correct and that the skin below isn't being chafed or otherwise harmed. Your doctor or physiotherapist may supply a harness, or tell you where you can get one. Some types of clothing may be difficult or impossible to use. Baths are not allowed.

Sponge baths are the alternative. It is also advisable to protect the legs of the harness when changing soiled diapers. This can be done with an old piece of material. When in the harness, babies must not be placed on their side or lifted from the feet. When holding baby, it is best to have one leg either side of your body, keeping the legs well apart. If you feel that the harness isn't fitting properly or needs adjusting, contact your physiotherapist immediately.

Don't attempt to remove or adjust the harness yourself, it can soon become a confusing tangle. Some doctors or physiotherapists recommend the use of a soft shirt under the harness, but not all of them. Discuss this if you feel your baby needs one.

Some useful links:

http://www.pffd.org/a_guide_to_pffd

http://www.lifebridgehealth.org/22149.cfm

http://www.limblengthening.org/

http://www.limblengthening.com