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Pfeiffer Syndrome

  • Overview

    Pfeiffer syndrome is a genetic disorder in which certain skull bones fuse early and prevent the skull from growing normally, which affects the shape of the head and face.

    Physical characteristics of this syndrome include:

    • tall skull and high prominent forehead
    • sunken mid-face
    • prominent eyes that appear to be bulging out and may be spaced widely apart
    • underdeveloped upper jaw and protruding lower jaw
    • broad, short thumbs and large toes
    • possible webbing of hands and feet

    Most children with Pfeiffer syndrome are of normal intelligence.

    Partners in care

    The Advanced Fetal Care Center of Boston Children's Hospital supports the needs of your family at every step of care for Pfeiffer syndrome — from diagnosis and counseling through treatment and follow-up. The Center's groundbreaking work has significantly improved treatment for children with this condition, while delivering hope and compassionate care to families along the way.

  • In-Depth

    What causes Pfeiffer syndrome?

    Some cases of Pfeiffer syndrome are the result if an inherited gene. In cases where there is no family history of Pfeiffer syndrome, the cause is thought to be a genetic mutation.

    No known food, medication or activity during pregnancy can cause Pfeiffer syndrome.

    What are the chances of having a child with Pfeiffer syndrome?

    Pfeiffer syndrome occurs in one out of 25,000 babies.

    • If one parent has Pfeiffer syndrome, there is a 50 percent chance that his child will be born with the disorder.
    • Unaffected parents who have one child with Pfeiffer syndrome rarely give birth to a second child with the condition.

    What symptoms might my child have?

    In addition to the physical characteristics common to the condition, your child may have the following problems:

  • Tests

    How is Pfeiffer syndrome diagnosed?

    Pfeiffer syndrome is sometimes detectable through a prenatal ultrasound. If your doctor suspects Pfeiffer syndrome in your fetus during pregnancy, genetic testing can be done to confirm the diagnosis.

  • How is Pfeiffer syndrome treated?

    Depending on the severity of the disorder, your child may require some or all of the following surgeries:

    • surgery to re-shape the skull
    • jaw surgery
    • surgery to correct eye problems
    • orthodontics to straighten the teeth

    What's my child's long-term outlook?

    With the proper treatment, most children with Pfeiffer syndrome grow up to have completely normal intelligence and normal lives.

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