KidsMD Health Topics

Apert Syndrome

  • Overview

    Apert syndrome is a rare genetic birth disorder involving abnormal growth of the skull and the face, as well as fused fingers and toes.

    • It can be inherited, or it may occur without a known family history.
    • Most children with Apert syndrome are of normal intelligence but mild learning difficulty occurs in some cases
    • Physical characteristics of this syndrome include:
      • tall skull and high prominent forehead
      • underdeveloped upper jaw
      • prominent eyes that appear to be bulging out and may be spaced widely apart
      • small nose
      • fused fingers
      • fused toes

    Craniofacial Anomalies Program

    The Craniofacial Anomalies Program at Boston Children's Hospital provides a team approach to the evaluation, diagnosis and treatment of children and adults with congenital or acquired facial deformities. If your child has been suffering from one of these conditions, our doctors can help.

    Expert team

    Our program is staffed by an experienced team of clinicians, all with specialized training in the care of children with craniofacial anomalies. Each year we treat more than 500 patients, 250 of them new patients, making our program one of the most experienced programs of its type in the country.

  • In-Depth

    What causes Apert syndrome?

    The precise cause is unknown. Doctors believe it's probably the result of genetic mutations that occur early on in pregnancy. No known food, medication or activity during pregnancy can cause your child to have Apert syndrome.

    How common is Apert syndrome?

    Apert syndrome occurs is about one in 175,000 births. If one parent has Apert syndrome, there is a 50 percent chance that their child will be born with the disorder.

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

    • slower mental development due to abnormal growth of the skull
    • cleft palate
    • vision problems caused by imbalance of the eye muscles
    • recurrent ear infections, which can cause hearing loss
    • difficulty breathing due to small nose and airway passages
    • increased perspiration (especially when asleep) due to hyperactive sweat glands
    • acne problems, especially during puberty
  • Tests

    How is Apert syndrome diagnosed?

    Since a child is born with Apert syndrome, it is usually diagnosed at birth by the physical signs. The fusions of the fingers and toes distinguish Apert syndrome from other craniofacial disorders.

    If Apert syndrome is suspected during pregnancy, your doctor may prescribe genetic testing to confirm the diagnosis.

  • How will my child be treated for Apert syndrome?

    Your child should be evaluated by members of an experienced, interdisciplinary team. No single specialist can manage Apert syndrome and its associated problems, as treatment usually involves many areas of specialty.

    Most children with Apert syndrome will require numerous operations into their adolescence and early adulthood.

    Your child may need surgeries to:

    • re-shape the skull
    • improve the upper airway, which may be partly blocked
    • correct eye problems
    • address dental problems
    • separate webbed fingers or toes

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

    The prognosis for children with Apert syndrome varies from child to child. It's important to get your child diagnosed early so that treatment can begin.

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