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Pfeiffer Syndrome | Overview

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 one 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.

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 listed below. Most of these children have normal intelligence and a normal life span.
  • Type 2: This is a more 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 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 causes Pfeiffer syndrome?

Pfeiffer syndrome is caused by a specific mutation (change) in a gene called fibroblast growth factor receptor (FGFR1 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.

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 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.

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, samantha.hall@childrens.harvard.edu.

International patients

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

Pfeiffer Syndrome | Diagnosis & Treatments

How we diagnose 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. A trained craniofacial surgeon and geneticist 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.

How we treat Pfeiffer syndrome

Pfeiffer syndrome is complex and involves several parts of your child’s face, head, and limbs. Because Pfeiffer syndrome involves the skull and face, it can also affect your child’s hearing, feeding, speech, and dental functions. Your child may require several treatments and surgeries to repair these anomalies. These procedures are very successful.

At Boston Children’s Hospital, our dedicated team of specialists will provide your child with the broad range of treatment and follow-up care that this rare and complex condition requires.

Advanced treatments for Pfeiffer syndrome at Boston Children’s Hospital

Boston Children’s Hospital provides the most advanced treatments available for Pfeiffer syndrome and other craniofacial anomalies, including:

Minimally invasive skull repair: For many patients, our doctors can release bands of tissue that connect the bones of the skull (called sutures) through several small incisions — instead of traditional open surgery. Offered during the first few months of a child’s life, this procedure helps to correct the shape of the skull and provides room for the brain to grow. After this procedure, your child will be fitted with a special, temporary helmet to correct the shape of the skull.

Fronto-orbital advancement: If minimally invasive (endoscopic) treatment is not an option for your child, surgery to correct the skull can be provided when your child is between 9 and 11 months. During this procedure, our world-renowned plastic surgeons and neurosurgeons will work together to release the fused sutures and reshape the skull. They will use a zigzag incision technique, which helps camouflage the scar and makes the incision less visible.

Le Fort Advancements: These upper jaw surgeries correct abnormalities of the maxilla (upper jaw), including the way the teeth align. They involve sectioning (cutting) and repositioning the upper jaw to correct its abnormal position. Our advanced, 3-D imaging technology enables our surgeons to create a precise surgical plan for your child.

Distraction osteogenesis: A procedure that moves two segments of a bone slowly apart so that new bone fills in the gap. During this procedure, a surgeon makes a break (called an osteotomy) in the abnormal bone and attaches a device known as a distractor to both sides of the osteotomy. This distractor is gradually adjusted over a period of days to stretch the gap and enable new tissue to fill it in. This procedure often follows a Le Fort advancement procedure.

Airway treatments: If your child is born with a blocked airway as a result of this condition, our otolaryngology, sleep medicine, and/or pulmonary specialists will provide an expert diagnosis and an immediate plan for treatment. At Boston Children’s Hospital, airway obstructions can be treated in many ways. Our world-renowned surgeons offer the most advanced treatments available. These options include:

  • wearing a continuous positive airway pressure (CPAP) mask
  • tonsillectomy and/or adenoidectomy
  • midfacial advancement (also called a “Le Fort III”)
  • In severe cases, placement of a tracheostomy (a surgical procedure creating an opening through the neck into the windpipe) may be needed until your child is old enough to undergo other operations.

Dental Treatment: The abnormal shape of the face can also affect the position of the teeth and the occlusion (the fitting together of the upper and lower teeth when the jaw is closed). Many children have an under bite, as well as misaligned teeth. Delayed tooth eruption is also common. Your child should visit a pediatric dentist when the teeth start to come in — no later than 2 to 3 years of age.

Pfeiffer Syndrome | Programs & Services