Congenital Limb Defects

What are congenital limb defects?

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.

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 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 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, causing immobilization, constrictions of the limbs, amputations, and other deformities.

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

Treatment for 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
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 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)

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