Pfeiffer Syndrome

Pfeiffer syndrome is caused by a change (mutation) in a gene that affects how bones form. Almost always, it is caused by changes in the FGFR2 gene (fibroblast growth factor receptor 2). About 5% of cases of type 1 Pfeiffer syndrome are caused by changes to the FGFR1 gene.

Usually the condition is caused by a new genetic change that was not inherited from the mother or father. Other times, a parent passes an abnormal gene to a child.

Our team is experienced performing the complex surgery your child might need, whether to expand their skull, lengthen their jaw or move bones in their face.

Our approach helps children with Pfeiffer syndrome get the maximum benefit from surgeries early in childhood. As a result, later in life, some surgeries are either not needed or are less extensive.

• Seattle Children’s Craniofacial Center is the first to use segmental subcranial distraction to adjust the jaw and middle of the face for children with Pfeiffer syndrome. Surgeons around the world are adopting our approach. It allows a child’s face to function more effectively. Our patients like the results.
• Often our treatment involves 2 types of surgery: cutting bone in the operating room, followed by distraction osteogenesis to grow a longer bone. A device called a distractor is used for several weeks after a child leaves the hospital. Cutting a bone and then stretching it with a distractor lets us make bigger corrections in bone position.
• 3-D imaging and powerful software help us predict future growth. Our surgery and orthodontic corrections take into account continued growth of your child’s bones. When your child is finished growing, their bones are in the desired position.

A craniofacial plastic surgeon and pediatric neurosurgeon work as a team during surgery on your child’s skull.

Every year we care for more than 150 children with craniosynostosis syndromes, including Pfeiffer.

Our experience with craniofacial conditions helps us find problems early and take steps to prevent or treat them. We watch carefully for problems that may develop with your child’s breathing, feeding, vision, hearing and development.

Every year our center cares for 2 or 3 new patients with Pfeiffer syndrome. Our experience with this rare condition helps us to continually improve our care. We can recommend the right treatment at the right time to have the best results for your child and your family.

Our center has experts in every field your child might need. These 50 specialists work together to diagnose and care for our patients.

Our team meets weekly to discuss children with complex needs and decide on the best care plan for each child. We work together, and with you and your family’s doctor, to manage your child’s personalized care.

A craniofacial pediatrician, nurse and social worker will work closely with your family. They help coordinate care and make sure all your questions are answered.

Your child’s craniofacial pediatrician guides your child’s treatment and decides if other specialists are needed. Your child’s team may include a craniofacial plastic surgeon, pediatric neurosurgeon, oral-maxillofacial surgeon, orthodontist, ophthalmologist and otolaryngologist.

We care for care for your child’s physical, emotional and comfort needs. Read more about the supportive care we offer.

A diagnosis of Pfeiffer syndrome can be scary. We take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

As your child gets older, we make sure they are involved in decisions about their medical care.

Our child life specialists and social workers support your child and your family through the challenges of this condition. We connect you to community resources and support groups.

Seattle Children’s provides craniofacial care for children in an area one-fourth the size of the continental United States. We also care for children from across the globe. This experience has helped us develop systems to provide outstanding, personalized care at great distance.

Our team has created a clinical care pathway for craniosynostosis. It guides our treatment of related syndromes like Pfeiffer. It is based on the research evidence about what is most effective.

We receive more research funding from the National Institutes of Health (NIH) than any other craniofacial center in the United States.

Our research is helping us to:

• Learn more about the genetic causes of craniosynostosis and an underdeveloped midface (midface hypoplasia)
• Understand how craniosynostosis affects learning and behavior
• Build a library of 3-D images to better measure the results of surgery and improve treatments

Learn about craniosynostosis research at Seattle Children’s.

Many babies with Pfeiffer syndrome have a flat forehead and a skull that is tall and narrow.

• Children with types 1 and 3 tend to have a tall, tower-shaped head (turribrachycephaly).
• Babies with type 2 Pfeiffer syndrome may have a “cloverleaf” skull shape that bulges out to the sides (also called Kleeblattschadel).

  Drawn by Raymond Sze

These changes result from the early closure of the soft, fibrous seams (sutures) between the skull bones. Pfeiffer syndrome usually affects both coronal sutures at the top and front of the skull (bicoronal synostosis). But other or all sutures may be involved.

Normally, the fibrous seams let the skull get bigger as the brain grows. If a suture closes early, it changes the shape of the head and reduces room for the growing brain. This can increase pressure inside your child’s skull.

Most often, in babies with Pfeiffer syndrome:

• The upper part of their face is flat.
• Their eyes stick out (proptosis) and may be wide-set. In children with type 2 or type 3 Pfeiffer syndrome, their eyes may bulge out so much that their eyelids cannot close.
• The middle of their face looks sunken in (concave). Incomplete development of the middle of the face (midface hypoplasia) can cause problems with breathing and chewing.

Babies with Pfeiffer syndrome are likely to have:

• Short fingers and toes (brachydactyly)
• Thumbs and big toes that are broad and bend away from the other fingers and toes
• Elbows and knees that are very stiff and hard to move because the bones in the joint are fused. This is called ankyloses. (types 2 and 3)
• Differences in the bones in the spine, especially the tailbone (type 2)

• Children with type 1 usually have normal cognitive development.
• Many children with types 2 and 3 have delayed development.

Our Craniofacial Genetics Clinic helps identify conditions caused by changes in genes. Our geneticists and genetic counselors can advise you about the pros and cons of genetic testing. They explain test results and your chance of having a child with Pfeiffer syndrome in a future pregnancy.

A genetic counselor also will give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

Our genetic counselors also advise people with Pfeiffer syndrome about their chance of having a child with the syndrome.

• A person with Pfeiffer syndrome has a 50% chance in each pregnancy of passing down the gene that causes the condition.

Our first priority is to make sure your child is breathing well. Differences in the bones in the jaw or midface or an abnormal windpipe can make it hard to breathe.

In severe cases, a child may need a tube inserted in their windpipe (tracheostomy) soon after birth.

Later, your child will likely have surgery to reposition their jaw and face bones to help with breathing and other problems.

Sometimes children have trouble breathing while they sleep (obstructive sleep apnea). Over time, this may lead to problems with how the heart and lungs work. It also can contribute to problems with learning and behavior.

We will ask questions during clinic visits to assess whether this may be a problem. To better understand their breathing patterns, we may monitor your child overnight in our sleep lab (PDF) (Arabic) (Simplified Chinese) (Somali) (Spanish) (Vietnamese).

The treatment options and timing will depend on your child.

Most babies with Pfeiffer syndrome need surgery to reshape the back of their skull and give their brain more room. The procedure is called a posterior cranial vault distraction. Most babies have this surgery in their first year of life.

A craniofacial plastic surgeon and neurosurgeon work as a team to protect your child’s brain and achieve the best results. In the operating room, surgeons cut your child’s skull bone and attach a device called a distractor. After your child leaves the hospital, a parent or other caregiver adjusts the distractor for several weeks to stretch the bone so it grows longer.

Some children with Pfeiffer syndrome have an abnormality in the back of the brain (Chiari malformation). It can cause increased fluid build-up (hydrocephalus) in the brain and other complications. If it causes problems, your child may need surgery.

Checking fluid build-up and pressure in the skull

Your child’s team will check for signs of fluid build-up and increased pressure in the skull. These problems can happen during infancy or as your child grows.

• If fluid collects in your child’s brain, they may need a tube inserted to drain away extra fluid. The fluid drains into another part of the body, where it can be absorbed.
• At regular checkups, we ask about warning signs of increased pressure, such as headaches or problems with eyesight. If there are concerns, your child may have imaging scans or a special eye exam to check for swelling at the back of the eye.

In some children with Pfeiffer syndrome, their eyeballs stick out so much they cannot close their eyes. This risks damage from dryness. Lubricants and eye drops can help keep the eye moist and prevent scarring.

To protect their eyes, your child will need surgery that helps reshape the front of their skull. This also allows for continued growth of your child’s brain.

• One option is fronto-orbital advancement. It brings your child’s eyebrow bone area forward and shortens their high forehead.
• Children with severe airway blockage and poor eye protection may need monobloc frontofacial advancement. The procedure brings the forehead, eye sockets and upper jaw forward all at the same time.

During surgery, our craniofacial plastic surgeon and neurosurgeon work together in the operating room. Usually the procedure is done when your child is 1 to 2 years old.

When your child is 7 to 10 years old, we do an operation to move your child’s midface forward so they can breathe and chew more easily. It improves how their face looks, especially when viewed from the front. The operation also protects their eyes. It is called segmental subcranial distraction.

Our team developed segmental subcranial distraction to treat symptoms and appearance more effectively than the traditional approach for Pfeiffer syndrome (Le Fort III midface advancement). Our Craniofacial Center is the first to use this method. Surgeons around the world are now adopting it.

Segmental subcranial distraction moves bones in the midface in different amounts and in different directions. It lengthens the central face and nose and levels the eyes. As a result, the proportions of the face are more normal.

About half of children with Pfeiffer syndrome have some hearing loss because of very small ear canals and bones in the middle ear that transmit sound.

Most often your baby’s hearing is screened in the hospital soon after birth or within a few days. If problems are found, we do further testing. A specialist trained to test hearing in infants and children (audiologist) will perform the tests.

As your child grows, they will have a variety of hearing tests based on their age, ear health and how well they hear.

Our ear, nose and throat specialist (otolaryngologist) and audiologist will talk with you and your child about hearing management, such as:

• Whether hearing aids are needed
• How to prevent further hearing loss
• The best place to sit in the classroom, when your child reaches school age

Children with Pfeiffer syndrome have differences in the bones of their spine. These differences sometimes cause problems in the neck area (cervical spine) or increase the chance of curvature (scoliosis) or other injury to the spine.

We will check your child regularly. If needed, your child will see a doctor who specializes in bones and joints (orthopedics).

Children with type 1 Pfeiffer syndrome usually have normal cognitive development, but developmental delays are common in types 2 and 3. The amount of delay varies from child to child.

We carefully assess your child’s development. If we find delays, we recommend treatments and support services to help your child reach their full potential.

If needed, your craniofacial pediatrician and social worker refer you to community resources for children with developmental issues.

Good mouth care (oral hygiene) is important for all children, but especially those with craniofacial disorders.

A pediatric dentist will check your child’s general dental health and look to see if their teeth are too crowded. As your child grows, a craniofacial team orthodontist will check how your child’s upper and lower teeth fit together (occlusion).

Learn more about craniofacial orthodontics.

Your child may need:

• Upper teeth removed to relieve crowding because of their small upper jaw.
• Orthodontic braces to expand the roof of their mouth (palate) and align their teeth.
• Braces or appliances to put the teeth in the best position before jaw surgery.
• Surgery to move the upper jaw forward Le Fort I maxillary advancement if your child’s eeth do not fit together well when their face bones have finished growing. Usually, this happens at 16 years for a female and 18 years for a male.
• Braces to hold the teeth after jaw surgery until they settle in their new position.