Proximal Femoral Focal Deficiency (PFFD)
When one or both femurs (thigh bones) do not grow to the normal length in utero.
Understanding Proximal Focal Femoral Deficiency
Proximal Focal Femoral Deficiency, often referred to as PFFD, is a congenital difference that affects the long bone in the thigh, called the femur. With PFFD, one or both femurs do not grow to the normal length. The change in length can range from a slight shortening of the leg to almost all of the femur being absent.
PFFD has been diagnosed as early as 19 weeks into the mother’s pregnancy, but is most often seen first at birth. An x-ray of the femur and hip on the affected side will diagnose PFFD. Without appropriate treatment, PFFD can impact the child’s ability to walk.
The entire health care team will be involved in treating a child with PFFD to get the best result. Sometimes surgery is needed to treat PFFD to improve the child’s ability to walk. This can be in the form of a leg lengthening or an amputation. Two types of amputation surgery that are common with PFFD are a rotationplasty (also known as a Van Nes procedure) or a Symes amputation.
Regardless of the stage, treatment is needed, either with a brace or a prosthesis, for the child to walk. This usually starts when the child begins walking, around one year of age, and continues throughout their life. Those that have a difference in leg lengths may wear a lifted shoe on their shorter side. Children that have had an amputation will require a prosthesis to allow walking. This prosthesis will be specially designed depending on the type of surgery and unique needs of the child.
Gerscovich, Eugenio O et al. “Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency.” Journal of ultrasonography vol. 17,71 (2017): 294-298. doi:10.15557/JoU.2017.0043.
PFFD – Proximal Focal Femoral Deficiency. International Pediatric Orthopaedic Society of North America.
Congenital Femoral Deficiency (CFD). International Center for Limb Lengthening.
Subscribe to stay up-to-date on our latest posts.