Conditions + Treatments

Diagnosing Apert Syndrome in Children

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

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

International Patients

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

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337