KidsMD Health Topics

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.

    The most common congenital limb defects can include

    • 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 amniotic sac (inner membranes that cover the fetus in utero and contain 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.

    How Boston Children's Hospital approaches congenital limb defects

    The overall goal for treatment of congenital limb defects is to provide your child with a limb that has proper function and appearance. At Children's, multidisciplinary teams of surgeons and physical therapists work to serve your child's individual needs.

    Contact Us

    Orthopedic Center
    Boston Children's Hospital

    300 Longwood Avenue
    Fegan 2
    Boston MA 02115

    617-355-6021

    Hand and Reconstructive Microsurgery Program
    Boston Children's Hospital

    300 Longwood Avenue
    Hunnewell 1
    Boston MA 02115

    617-355-7252

  • How common are congenital limb defects?

    Different congenital limb defects are more common than others. For example, constriction band syndrome occurs in one out of every 10,000-15,000 births, while extra fingers/toes occur in one out of every 1,000 births.

    Are congenital limb defects inherited?

    Most congenital limb defects appear to be spontaneous, with no apparent cause. However, certain conditions such as extra finger/toes may be due to an inherited defect.

    What causes congenital limb defects?

    While we still don't know what causes most congenital limb defects, there are certain factors that can increase the risk for developing these conditions, including

    • conditions affecting the baby in the uterus during development
    • exposures by the mother to chemicals or viruses while pregnant
    • specific medications

    Some congenital limb defects, such as cleft hands, may be part of a syndrome that includes other symptoms. In these situations, some patients with cleft hands may also have cleft lip, foot abnormalities, deafness, or congenital conditions affecting the heart and digestive systems.

  • How does a doctor know my child actually has a congenital limb defect?

    Your child's doctor may diagnose your child's condition after a close physical examination at birth. Further X-rays may be needed in order to spot underlying deformities of the bones.

  • How do doctors treat 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 goal of any treatment for your child's congenital limb defect is:

    • 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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