Congenital limb defects

A congenital (present at birth) limb defect describes when a baby is born with a missing limb (arm or leg) or part of a limb.

What are congenital limb defects?

When a child is missing all or part of a limb at birth, it is called a congenital limb defect. A congenital limb defect can affect either the arms or legs. Most congenital limb defects happen because of genetic abnormalities or a limited environment during the baby’s development in the uterus. Most of the time, congenital limb defects affect the arms.

What are the different types of congenital limb defects?

The most common types of congenital limb defects include:

  • Complete absence of a limb
  • Duplication (usually extra fingers or toes)
  • Overgrowth (limb is much larger than normal)
  • Partial absence of a limb
  • Separation failure (usually in the fingers or toes)
  • Undergrowth (limb is much smaller than normal)
  • Constriction band syndrome (constrictive ring syndrome or Streeter's dysplasia) - This happens when the amniotic sac ruptures too early during pregnancy, causing the fetus to become caught in bands from the amniotic sac. This may result in constriction of limbs, amputations and other deformities.
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