Proximal Femoral Focal Deficiency/Congenital Femoral Deficiency

Evaluation and Management

Sarah B. Nossov, MD; Ilene L. Hollin, PhD, MPH; Jessica Phillips, MD; Corinna C. Franklin, MD


J Am Acad Orthop Surg. 2022;30(13):e899-e910. 

In This Article

Abstract and Introduction


Proximal focal femoral deficiency is a congenital transverse deficiency in which the femur is globally smaller with a typical proximal deformity at the hip that may include distal involvement of knees, leg, and feet. Congenital femoral deficiency (CFD) describes a broader spectrum of longitudinal deficiency inclusive of proximal focal femoral deficiency. CFD may also include lateral distal femoral hypoplasia, knee cruciate ligament deficiency, rotational instability, patellar dislocation, fibular hemimelia, ray absence, and contralateral limb involvement. Treatment intends to maximize function by limb equalization and deformity correction ranging from nonsurgical management using prosthetics to amputation and may include lengthening, shortening, and complex limb reconstruction. Management decisions depend on overall severity and the patient and family's preferences and priorities. Owing to its complexity, CFD is best treated by clinicians with considerable deformity treatment experience who can help guide decision making and embark on a treatment course that will maximize the functional outcome.


Proximal focal femoral deficiency (PFFD) is a congenital transverse deficiency where the femur is globally smaller and demonstrates a typical proximal deformity at the hip. PFFD is a subset of congenital femoral deficiency (CFD) that includes distal femoral deficiency and hypoplastic or aplastic femur. Within the field of deformity reconstruction, the term PFFD has largely been replaced by CFD. The spectrum of presentation is wide and involves differences of the bone, soft tissue, and neurovascular structures[1] related to the femur and often includes additional deformities distally in the leg and foot resulting in varying complex manifestations. Despite the existence of five current classification systems, no system is universally used resulting in no clear consensus on treatment and individualized management.[2] Given the complexity of CFD, care for these patients often requires experience in complex deformity reconstruction. This study introduces the reader to the complexity of CFD from anatomy to designing treatment plans. We describe the major categories defining reconstruction and conservative management. Much is left unsaid on the management of associated abnormalities distal to the knee which lie outside the scope of this study.