Pfeiffer Syndrome

What is Pfeiffer syndrome?

Pfeiffer syndrome is a genetic disorder in which some seams of the skull fuse too early in prenatal development. It is a form of syndromic craniosynostosis that is generally characterized by a high forehead, bulging and wide-set eyes, an underdeveloped upper jaw and beaked nose, as well as abnormalities of the hands and feet.

There are three types of Pfeiffer syndrome, each with varying degrees of severity. Children with type 2 and 3 typically have nervous system issues; children with type 2 may also present with a cloverleaf-shaped head.

Patients with Pfeiffer syndrome look very similar to individuals with Crouzon syndrome. Appearance can vary depending on if your child is mildly or more severely affected, but a common characteristic is the appearance of short, broad thumbs and partial fusing of the fingers (syndactyly). 

Treatment

The treatment of Pfeiffer syndrome is dependent upon both functional and appearance-related needs, and should be addressed immediately after your child is born. Because of the complex issues that can be associated with Pfeiffer syndrome, your child should be treated at a medical center where she will have access to pediatric specialists across the many clinical areas she may need.

At The Children’s Hospital of Philadelphia, coordinated care of patients with Pfeiffer syndrome is typically managed through the Craniofacial Program, working closely with the Hand and Arm Disorders Program to treat congenital deformities of the hand; the Center for Pediatric Airway Disorders to address breathing issues; and the Pediatric Feeding and Swallowing Center to manage feeding issues. Eye protection or balance issues, such as strabismus, are coordinated through the Division of Ophthalmology.

Because every patient with Pfeiffer syndrome has unique problems, the timing and course of surgical treatment is highly individualized. It is important to see a surgeon with expertise in pediatric plastic and reconstructive surgery who specializes in treating this rare condition. Learn more about the surgical treatment approach for syndromic craniosynostosis.

As your child grows, she should also have access to psychosocial support services to address any mental, social or psychological issues that accompany these conditions.

Watch our educational video to learn more about the services and treatment options CHOP offers to children with craniofacial conditions such as Pfeiffer syndrome.

Craniofacial Patient Daniel

Watch: All About Craniofacial Conditions

Learn about the diagnosis and treatment of craniofacial conditions, including craniosynostosis, hemifacial microsomia, and other syndromes.

craniofacial patient playing basketball

Why Choose the Craniofacial Program

CHOP’s Craniofacial Program is one of the Nation’s leading treatment programs for children with both congenital and acquired anomalies of the face and skull.