Apert Syndrome Symptoms & Causes

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Contact the Cleft and Craniofacial Center

Apert syndrome is a rare genetic birth disorder that occurs in about one in 175,000 births. It involves the abnormal growth of the skull and the face, as well as fused (joined) fingers and toes.

What are the Signs of Apert Syndrome?

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

Additional symptoms of Apert syndrome include:

  • Slower mental development due to the abnormal growth of the skull
  • Cleft palate
  • Vision problems caused by an imbalance of the eye muscles
  • Recurrent ear infections, which can cause hearing loss
  • Difficulty breathing due to a small nose and airway passages
  • Increased perspiration (especially when asleep) due to hyperactive sweat glands
  • Acne problems, especially during puberty

What Causes Apert Syndrome?

The precise cause of Apert syndrome is unknown. Doctors believe it's probably the result of genetic mutation that occurs early on in pregnancy in a gene called “fibroblast growth factor receptor 2,” or FGFR2. Because this gene plays an important role in bone growth, disruption of it may cause the physical traits of Apert syndrome, such as:

  • Craniosynostosis: A birth defect in which one or more of the joints between the bones of your baby's skull close prematurely
  • Syndactyly: Webbed or conjoined fingers

The FGFR2 gene is also involved in similar craniofacial syndromes, including Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss.

No known food, medication or activity during pregnancy can cause your child to have Apert syndrome.

Apert syndrome can be inherited, or it may occur without a known family history. If one parent has Apert syndrome, there is a 50 percent chance that their child will be born with the disorder.

Make an Appointment

For an appointment with the Cleft and Craniofacial Center, more information or to obtain a second opinion for your child, please call us at 617-355-6309 or email samantha.hall@childrens.harvard.edu.

International Patients

For families residing outside of the United States, please call Boston Children's International Health Services at +01-617-355-5209.

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- Sandra L. Fenwick, President and CEO

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