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Congenital Limb Defects

What are congenital limb defects?

Congenital limb defects happen when a portion or the entire upper or lower limb fails to form normally or does not form when the baby is developing in the uterus.

What causes congenital limb defects?

The cause of congenital limb defects is unknown. However, risk factors that may increase the likelihood of a congenital limb defect include the following:

  • Conditions, such as genetic abnormalities, growth restriction, mechanical forces, that affect the baby in the uterus during development

  • Exposures by the mother to chemicals or viruses while pregnant

  • Specific medicines

  • Possible exposure to tobacco smoke (more research is needed)

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 absence of the limb

  • 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

  • Congenital constriction band syndrome. Early rupture of the amnion (inner membranes that cover the fetus in utero and contains the amnionic fluid) resulting in bands that may become entangled in the extremities of the fetus. This causes immobilization, constrictions of the limbs, amputations, and other deformities.

Congenital limb defects may also be associated with other bone conditions or syndromes. Always talk with your child's healthcare provider for a diagnosis.

Treatment for congenital limb defects

Specific treatment for congenital limb defects will be determined by your child's healthcare provider 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 medicines, procedures, or therapies

  • Expectations for the course of the condition

  • Your opinion or preference

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 a sense of independence

  • Encouraging self-care

  • Improving cosmetic appearance

  • Adaptation

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

  • Prosthetics (artificial limbs)

  • Orthotics (splints or braces)

  • Surgery

  • Rehabilitation (physical or occupational therapy)

Medical Reviewers:

  • Joseph, Thomas N., MD
  • Moloney Johns, Amanda, PA-C, MPAS, BBA