Congenital Limb Defects

A child plays hopscotch.Congenital limb defects occur when a portion or the entire upper or lower limb fails to form normally when the baby is developing in the uterus.

The most common congenital limb defects can include:

  • complete or partial absence of the limb (such as fibula hemimelia or congenital absence of the tibia)
  • failure of the portion of the limb to separate (commonly seen in fingers or toes)
  • duplication (commonly seen as extra fingers or toes)
  • overgrowth (the limb is much larger than the normal limb)
  • undergrowth (the limb is much smaller than the normal limb)
  • amniotic band syndrome: early rupture of the amniotic sac (inner membranes that cover the fetus in utero and contain the amnionic fluid) resulting in bands that may become entangled in the extremities of the fetus, causing immobilization, constrictions of the limbs, amputations, and other deformities.

How common are congenital limb defects?

Different congenital limb defects are more common than others. For example, constriction band syndrome occurs in one out of every 10,000 to 15,000 births, while extra fingers/toes occur in one out of every 1,000 births.

Are congenital limb defects inherited?

Most congenital limb defects appear to be spontaneous, with no apparent cause. However, certain conditions such as extra finger/toes may be due to an inherited defect.

What causes congenital limb defects?

While we still don't know what causes most congenital limb defects, there are certain factors that can increase the risk for developing these conditions, including:

  • conditions affecting the baby in the uterus during development
  • exposures by the mother to chemicals or viruses while pregnant
  • specific medications

Some congenital limb defects, such as cleft hands, may be part of a syndrome that includes other symptoms. In these situations, some patients with cleft hands may also have cleft lip, foot abnormalities, deafness, or congenital conditions affecting the heart and digestive systems.

How we care for congenital limb defects

The Orthopedic Center’s Hand and Orthopedic Upper Extremity Program and our Department of Plastic and Oral Surgery’s Hand and Reconstructive Microsurgery Program have treated thousands of babies and children with congenital limb defects and other hand problems. We are experienced treating conditions that range from routine to highly complex, and can provide your child with expert diagnosis, treatment, and care. We also offer the benefits of some of the most advanced clinical and scientific research in the world.

Our Orthopedic Center is nationally known as the preeminent center for the care of children and young adults with a wide range of developmental, congenital, neuromuscular, sports related, traumatic, and post-traumatic problems of the musculoskeletal system.

Our Department of Plastic and Oral Surgery is one of the largest and most experienced pediatric plastic and oral surgery centers anywhere in the world. We provide comprehensive care and treatment for a wide variety of congenital and acquired conditions, including hand deformities.