Proximal femoral focal deficiency 2413078 218619578 2008-06-11T13:10:11Z Geniac 1839933 undid unexplained removal of information '''Proximal femoral focal deficiency''' ('''PFFD''') is a rare, [[heredity|non-hereditary]] [[congenital disorder|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 [[human leg|leg]] shortened. It is commonly linked with the absence or shortening of a thigh bone ([[fibular hemimelia]]) and the absence of a [[patella|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]] deformations. ==Classifications== There are typically four classes (or ''types'') of PFFD, ranging from class A to class D, as detailed by Aitken [http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/pffd.htm]. ==Causes== PFFD is caused by [[toxin]]s present in the body during [[pregnancy]], with [[thalidomide]] being the only confirmed drug to cause the disorder. Other suspected causes include an over-exposure to [[radiation]], and [[bacteria]]l/[[virus|viral]] [[infection]]s. ==Treatment== Depending on the severity of the deformities, the treatment may include the [[amputation]] of the foot or part of the leg, lengthening of the femur, or custom shoe lifts. Amputation usually requires the use of [[prosthesis]]. In less severe cases, the use of an [[Ilizarov apparatus]] can be successful in conjunction with hip and knee surgeries (depending on the status of the femoral head/kneecap) to extend the femur length to normal ranges. This method of treatment can be problematic in that the Ilizarov might need to be applied both during early childhood (to keep the femur from being extremely short at the onset of growth) and after puberty (to match leg lengths after growth has ended). The clear benefit of this approach, however, is that no prosthetics are needed and at the conclusion of surgical procedures the patient will not be biologically or anatomically different from a person born without PFFD. ==References== *[http://www.dynomed.com/encyclopedia/encyclopedia/pediatric_orthopedics/Proximal_Femoral_Focal_Deficiency.html Proximal Femoral Focal Deficiency] at DynoMed.com. Accessed [[9 August]] [[2005]]. ==External links== *[http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/pffd.htm Proximal Femoral Focal Deficiency] at the Pediatric Orthopedics department of the [[Alfred I. duPont Hospital for Children]] <!-- includes info that would be very good if it were included --> *[http://www.pffd.org/ PFFD.org] an informational resource for the PFFD community *[http://www.aesthetic.com.ua/elimination-of-defects/defect-correction/patient-9 PFFD treatment using Ilizarov devices] Photo and X-ray *[http://www.npr.org/templates/story/story.php?storyId=6869065 NPR Interview] with the author of a memoir about growing up with PFFD [[Category:Congenital disorders]]