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.

Boston Children's Hospital approach to congenital limb defects

The overall goal for treatment of congenital limb defects is to provide your child with a limb that has proper function and appearance. At Boston Children's, multidisciplinary teams of surgeons and physical therapists work to serve your child's individual needs.