Conditions + Treatments

Diagnosing Apert Syndrome in Children

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Contact the Cleft and Craniofacial Center

Apert syndrome is a complex genetic condition that may affect a child’s face, skull, teeth, hands and feet.

How is Apert Syndrome Diagnosed?

Apert syndrome is usually diagnosed at birth by the physical signs, such as a tall skull and high, prominent forehead, underdeveloped upper jaw, prominent eyes and fused fingers and/or toes. The fusion of the fingers and toes distinguishes Apert syndrome from other craniofacial disorders.

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

After your child is born, a craniofacial surgeon, geneticist and hand surgeon will evaluate your child. Their evaluation may include:

  • X-rays
  • computed tomography (CT) scan
  • Genetic testing, using a sample of blood or saliva

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.

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.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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