What does PFFD mean

First, it's important to at least understand the name PFFD. It's really not as bad as it seems. Let's look at each word:

  • Proximal   -    nearest the point of attachment or center of the body
  • Femoral    -    pertaining to the thigh bone or femur
  • Focal        -    pertaining to a focus or starting point
  • Deficiency -   a lack; less than the normal amount

In other words, the end of the thigh bone closest to the hip is too short or not completely developed.

PFFD is a congenital anomaly (birth defect) characterized by a failure of normal development of the proximal (upper) end of the femur (thigh bone). In most cases, the iliofemoral joint (hip) is also poorly developed. PFFD varies in severity from the mild case with a short femur but normal hip joint - to the more severe case where no hip joint is present.[Westin,1969] The condition may be unilateral (one leg) or bilateral (both legs) and is often associated with other birth defects.[Aitken,1969]

The appearance of a child born with PFFD is very typical. The thigh is abnormally short, held in flexion (bent), abduction (moved to the side), and external rotation.[Westin,1969] Some older texts have described the leg as an upside down L-shape or resembling a ship's funnel. The foot of the affected leg is frequently at the level of the opposite knee.