Testing & Diagnosing Pfeiffer Syndrome

Pfeiffer syndrome is usually diagnosed at birth, based on the appearance of your child’s face and skull. Our expert craniofacial team will confirm a diagnosis of this condition and help you make decisions about your child’s care. We are here to support you every step of the way.

How is Pfeiffer Disease Diagnosed?

At Boston Children’s Hospital, a trained craniofacial surgeon and geneticist can confirm a diagnosis of Pfeiffer syndrome. They will evaluate your baby and may order an X-ray and/or a computed tomography (CT) scan to confirm the diagnosis. Genetic testing may also be done 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 our program coordinator, samantha.hall@childrens.harvard.edu.

International Patients

For families residing outside of the United States, please call Boston Children's International Health Services at +1-617-355-5209.