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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.
Physical characteristics of this syndrome include:
Additional symptoms of Apert syndrome include:
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:
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.
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 firstname.lastname@example.org.
For families residing outside of the United States, please call Boston Children's International Health Services at +01-617-355-5209.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”