Proximal Femoral Focal Deficiency (PFFD)

We may be able to help your child walk easier.

One of the true pleasures of being a parent is seeing your child grow and develop. But sometimes, conditions beyond your control can affect your child. 1 in every 50,000 to 200,000 children struggle with proximal femoral focal deficiency (PFFD), a limb deficiency present from birth. A child afflicted with PFFD has an abnormally short femur or thighbone.

Anatomically, the hip joint is structured like a ball and socket where the round femoral head is the “ball” resting in the hollow of the acetabulum, the “socket.” The ball’s movement within the socket allows a certain range of rotary motion while supporting the body’s weight.

In mild PFFD cases, the knee and hip are correctly formed, and only the femur is short. Severe cases are marked by a missing connection between the femoral head and femoral shaft or the long, straight part of the thighbone. In some cases, there might not be a hip joint at all. When no hip joint is present, the knee is contracted and stiff.

Our pediatric orthopedic doctors in West Palm Beach may be able to correct any issues arising from a congenital femoral deficiency. Palm Beach Children’s Hospital offers orthopedic treatments designed to improve your child’s mobility. Our physical therapists, nurses, prosthetic experts and pediatric orthopedic surgeons in West Palm Beach will collaborate to determine the most appropriate interventions to provide your child with the best chance to increase their lower limb functionality.

What Is PFFD?

PFFD is a congenital deformity affecting the femur. It is part of the congenital femoral deficiency (CFD) spectrum, which may range from a shortened femur to the absence of about two-thirds of this femur. A person with PFFD may experience challenges in walking and movement due to:

  • Limb length discrepancy where one leg is longer than the other
  • Instability of the hip and knee joint on the affected leg
  • Permanent tightening of the hip and knee muscles
  • Unequal level of the knees

PFFD may be associated with other malformations or underdevelopment of the affected limb, such as:

  • Fibular hemimelia, which is characterized by a short or missing fibula (one of the lower leg bones), and
  • Lack or failure of development of cruciate ligament, which functions to keep the knee bending the way it should

The most used PFFD classification was developed by Aitken and modified by Amstutz. The four types of PFFD are based on the following:

  • Presence of femoral head
  • Hip joint stability
  • Acetabular hypoplasia or the underdevelopment of the “socket” where the femoral head is supposed to fit

Class A is the least severe, while Class D is the most severe. However, Aitken’s classification does not consider cartilage and soft tissue abnormalities.

What Causes PFFD?

Most causes of PFFD are unknown. Researchers suspect that a disruption in early prenatal development, such as infection or external trauma, might cause PFFD. However, the drug thalidomide has been shown to cause PFFD and other limb abnormalities in a developing fetus.

If you are pregnant, do not take the drug thalidomide, as this can result in severe congenital disabilities for your unborn baby.

PFFD can be diagnosed at birth or during a prenatal ultrasound. To get the complete picture of a patient's PFFD, a doctor may perform imaging tests such as:

  • X-rays
  • EOS imaging
  • Computer tomography (CT) scan
  • Magnetic resonance imaging (MRI)
  • Hip arthrography
  • Ultrasound

How Common Is PFFD?

PFFD affects 1 in every 50,000 to 200,000 children. Its treatment requires a multidisciplinary medical team, as no single treatment approach applies to all PFFD patients. The goal of proximal femoral focal deficiency treatment is for the patient to walk with ease.

The first step of proximal femoral focal deficiency treatment is determining whether the patient is a candidate for limb modification or length lengthening. Depending on the severity of the PFFD, patients may need surgical, nonsurgical and/or orthotic treatment.

Here are some factors that can determine the course of treatment for a PFFD patient:

  • Limb length discrepancy
  • Presence of foot and other deformities
  • Power and adequacy of the musculature
  • Proximal joint stability

Nonoperative PFFD Management Options

While waiting for your child to reach an appropriate age for surgery, our orthopedic doctors may recommend your child be fitted with braces and an extension prosthesis. Doing this can help them establish balance and stability.

Operative PFFD Management Options

Limb Lengthening
Limb lengthening procedures aim to stimulate bone growth through surgery without using a prosthesis. Often, patients must undergo a leg-lengthening surgery over several years, depending on their growth stage, age and the needed lengthening. To avoid severe complications, the following issues must be addressed first:

  • Acetabular Hypoplasia: can be treated with acetabuloplasty.
  • Knee Instability: can be addressed through soft tissue reconstruction or putting a knee fixator.
  • Contractures: will be addressed during surgical reconstruction.
  • Coxa Vara: a hip deformity due to the reduced angle between the femoral shaft and the femoral neck, which connects the shaft to the femoral head. Valgus osteotomy is a treatment for coxa vara.

Limb Modification
Limb modifications are an option for patients with very severe deformities. This treatment might include hip and/or knee arthrodesis, foot ablation, hip reconstruction, limb rotationplasty and iliofemoral arthrodesis. The main goal of this treatment is to allow for a prosthetic to be worn, which results in less energy required for walking.

Why Choose Palm Beach Children’s Hospital

You have come to the right place if you are looking for a pediatric orthopedist in West Palm Beach, Florida, to treat your child’s PFFD. Palm Beach Children's Hospital has compassionate specialists, experts and facilities to help your child walk easier. We can help you develop a customized PFFD treatment plan to address your child’s specific needs.

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