Pfeiffer Syndrome

What is Pfeiffer Syndrome?

Pfeiffer syndrome is a complex genetic disorder in which certain bones in the skull fuse (join together) early in their development. This prevents the skull from growing normally, affecting the shape of the head and face and sometimes causing increased pressure around the brain. 

Pfeiffer syndrome also affects the hands and feet. Children with this condition have broad, short thumbs and big toes. They may have webbing between the fingers and toes.

Pfeiffer syndrome occurs in 1 out of 100,000 newborns.

Treatment of this disorder requires a collaborative medical team that can address the many needs of your child, from diagnosis and counseling all the way through treatment and follow-up. At Boston Children’s Hospital, our dedicated and knowledgeable craniofacial team provides you and your child with the care and expertise necessary to treat this rare and complex condition.

Why Choose Boston Children’s Hospital for Pfeiffer Syndrome Care

Families seeking the very best care for their child come to the Craniofacial Program at Boston Children’s for our:

  • Nationally recognized care: U.S.News & World Report ranks Boston Children's Hospital higher in more specialties—including neurosurgery—than any other children's hospital in the country.
  • Experience in craniofacial anomalies: We care for more than 500 patients every year with a range of craniofacial conditions. Our extensive experience and commitment to innovative and compassionate care have established us as a national leader in treating children with conditions such as Pfeiffer syndrome.
  • Surgical expertise: Our plastic surgeons and neurosurgeons are world renowned for their advanced surgical techniques and precision in treating this complex craniofacial anomaly. Learn more about Pfeiffer syndrome treatment.
  • Team approach: Because Pfeiffer syndrome involves the skull and face it can affect a child’s hearing, feeding, speech and dental functions. At Boston Children’s Hospital, our dedicated and knowledgeable team of specialists from several disciplines provides you and your child customized and collaborative care. Meet our craniofacial team.
  • Research and innovation: Our clinicians are involved in research that moves us closer to a better understanding of—and treatment for—all deformities of the head and face. Learn more about our craniofacial research.

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 1-617-355-6309 or email our program coordinator,

International Patients

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