Congenital limb defects occur 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.
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 medications
Possible exposure to tobacco smoke (more research is needed)
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 doctor for a diagnosis.
Specific treatment for congenital limb defects will be determined by your child's doctor 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)