Symptoms & Causes of Pfeiffer Syndrome

What are the Symptoms of Pfeiffer Syndrome?

Pfeiffer syndrome is a complex genetic disorder that affects your child’s head, face, hands and feet. Clinical features vary for different children and range from mild to severe. Pfeiffer syndrome may include:

  • Craniosynostosis: Premature (early) closure of growth plates of the skull that changes the shape of the head and can put increased pressure on the brain. This makes skulls appear “too tall” and overly flat from the middle part of their faces upward.
  • Midfacial hypoplasia: Decreased growth of the middle of the face, causing a sunken facial appearance. This can also cause potential airway obstruction, sleep apnea and a concave facial profile.
  • Proptosis: Protruding, unprotected eyes
  • Brachydactyly: Unusually short fingers and toes
  • Syndactyly: Webbing or fusion between the fingers or toes

Other features of the condition may include:

  • Crowded teeth
  • Cleft palate
  • Some hearing loss, due to a defect in the middle ear
  • Fused (joined) spinal bones
  • Wide thumbs and big toes that bend away from the other digits

What are the Different Types of Pfeiffer Syndrome?

The different forms of Pfeiffer syndrome are classified into the following types:

  • Type 1: Considered classic Pfeiffer syndrome, type 1 refers to the most common form, which is characterized by milder forms of the symptoms above. Most of these children have normal intelligence and a normal life span.
  • Type 2: This is amore severe form of the syndrome and includes the presence of a cloverleaf-shaped head caused by more extensive fusion of bones in the skull. Type 2 is also characterized by severe midface hypoplasia and hydrocephalus. A child with type 2 may have significant developmental delays and a shortened lifespan.
  • Type 3: Similar to type 2 but without a cloverleaf-shaped head.

What Causes Pfeiffer Syndrome?

Pfeiffer syndrome is caused by a specific mutation (change) in a gene called fibroblast growth factor receptor (FGFR 1 or FGFR2). This gene is also involved in other craniofacial anomalies such as Crouzon syndrome and Apert syndrome.

Experts do not know the exact cause of these gene mutations.

Most parents who have a baby with Pfeiffer syndrome have normal genes. However, children with Pfeiffer syndrome can pass the gene on to their children. A parent with Pfeiffer syndrome has a 50 percent chance of having a baby who also has Pfeiffer syndrome. If you have Pfeiffer syndrome and wish to have children, our geneticist can meet with you to discuss the risks and help you make a thoughtful, informed decision.

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,

International Patients

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