Congenital limb defects occur when a portion or the entire limb fails to form normally when the baby is developing in the uterus. The cause of congenital limb defects is unknown. However, risk factors that may increase the likelihood of a congenital limb defect include:

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

Our orthopedic specialists at Children’s Wisconsin treat all types of congenital lower limb defects. 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 toes)
• Duplication (commonly seen as extra toes)
• Overgrowth: The limb is much larger than normal
• Undergrowth: The limb is much smaller than normal
• 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, causing immobilization, constrictions of the limbs, amputations and other deformities.

The diagnosis of congenital limb defects is made at birth. Congenital limb defects may also be associated with other bone conditions or syndromes. Always consult your child's physician for a diagnosis.

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
• 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:

• 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)