summary Proximal Femoral Focal Deficiency is a congenital condition caused by a defect in the primary ossification center of the proximal femur that may present with an absent hip, femoral neck pseudoarthrosis, absent femur, or a shortened femur. Diagnosis is made with radiographs of the hip and femur. Treatment is nonoperative or operative depending on location and size of the femoral defect, as well as presence of bilateral involvement. Epidemiology Anatomic location bilateral (15%) Etiology Pathophysiology defect in the primary ossification center (cartilage anlage) Spectrum spectrum of disease includes absent hip femoral neck pseudoarthrosis absent femur shortened femur Genetics primarily sporadic etiology, but rare autosomal dominant form exists associated with sonic hedge-hog gene (limb bud) Associated conditions orthopaedic manifestations fibular hemimelia (50%) ACL deficiency coxa vara knee contractures nonorthopaedic manifestations dysmorphic facies found in rare autosomal dominant type Classification Aitken classification Class Femoral head Acetabulum A Present Normal B Present Mildly dysplastic C Absent Severely dysplastic D Absent Absent Presentation Physical exam severe shortening of one or both legs percentage of shortening remains constant with growth short bulky thigh that is flexed, abducted, and externally rotated normal feet (most common) Treatment Goals of treatment treatment must be individualized based on ultimate leg length discrepancy presence of foot deformities adequacy of musculature proximal joint stability Nonoperative observation indications login to view 1 more bullet extension prosthesis indications login to view 2 more bullets Operative ambulation without prosthesis limb lengthening with or without contralateral epiphysiodesis login to view 7 more bullets ambulation with a prosthesis knee arthrodesis with foot ablation login to view 4 more bullets femoral-pelvic fusion (Brown's procedure) login to view 2 more bullets Van Ness rotationplasty login to view 8 more bullets amputation login to view 5 more bullets