Proximal femoral focal deficiency

A rare, non-hereditary birth defect affecting the hip and proximal femur

Overview

Diagram illustrating proximal femoral focal deficiency

Proximal femoral focal deficiency (PFFD) is a rare, non-hereditary birth defect characterized by the partial absence or underdevelopment of the proximal femur and hip joint. This condition results in a shortened femur and can significantly affect the function and appearance of the affected limb.

Etiology

The exact cause of PFFD is unknown, but it is believed to occur due to disruptions in the development of the limb during the early stages of pregnancy. Factors such as genetic mutations, environmental influences, and vascular disruptions have been suggested as potential contributors.

Classification

PFFD is classified based on the extent of the femoral deficiency and the involvement of the hip joint. The most commonly used classification system is the Aitken classification, which divides PFFD into four types:

• Type A: The femoral head is present and connected to the shaft by a short segment of bone.
• Type B: The femoral head is present but not connected to the shaft.
• Type C: The femoral head is absent, and the acetabulum is poorly developed.
• Type D: The femur is severely shortened or absent, with significant hip joint abnormalities.

Clinical Presentation

Patients with PFFD typically present with a shortened thigh, limited range of motion in the hip joint, and limb length discrepancy. The severity of these symptoms varies depending on the type of PFFD. In some cases, the affected limb may also exhibit rotational deformities.

Diagnosis

Diagnosis of PFFD is primarily based on clinical examination and imaging studies. Radiographs are used to assess the structure of the femur and hip joint, while MRI and CT scans can provide detailed information about the soft tissues and bone morphology.

Management

The management of PFFD is tailored to the individual needs of the patient and may include:

• Prosthetic management: Use of prosthetic devices to compensate for limb length discrepancy and improve function.
• Surgical intervention: Procedures such as limb lengthening, hip reconstruction, or rotationplasty may be considered to enhance mobility and function.
• Physical therapy: To improve strength, flexibility, and overall function of the affected limb.

Prognosis

The prognosis for individuals with PFFD varies widely depending on the severity of the condition and the effectiveness of the treatment. With appropriate management, many patients can achieve functional mobility and lead active lives.

Related pages

• Congenital limb deficiency
• Limb lengthening
• Orthopedic surgery