What are the Causes of Congenital Limb Defects?

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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.

Causes of Congenital Limb Defects

Most congenital limb defects appear to be random events with an unknown cause. However, risk factors that may increase the likelihood of a congenital limb defect include the following:

  • Conditions affecting the baby in the uterus during development
  • Exposures by the mother to chemicals or viruses while pregnant
  • Specific medications

How are Congenital Limb Defects Diagnosed?

The diagnosis of congenital limb defects is made at birth. The most common congenital limb defects can be classified as follows:

  • 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
  • Constriction band syndrome early rupture of the amnion (inner membranes that cover the fetus in utero and contains the amniotic fluid) resulting in bands that may become entangled in the extremities of the fetus, causing immobilization, constrictions of the limbs, amputations, and other deformities.

Treatment of Congenital Limb Defects

Specific treatment for congenital limb defects will be determined by your child’s physician based on:

  • Your child’s age, overall health, and medical history
  • The extent of the condition
  • The type of condition
  • Your child’s tolerance for specific medications, procedures, or therapies
  • Your opinion or preference
  • Expectations for the course of the condition

The overall goal for treatment of congenital limb defects is to provide the child with a limb that has proper function and appearance.

Treatment goals can vary for each child. Some goals may include the following:

  • Promoting normal development
  • Discovering sense of independence
  • Encouraging self-care
  • Improving cosmetic appearance
  • Adaptation

There are no standardized treatment protocols for congenital limb defects. Treatment options may include:

  • Prosthetics (artificial limbs)
  • Orthotics (splints or braces)
  • Surgery Rehabilitation (physical or occupational therapy)