Pfeiffer Syndrome

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What is Pfeiffer syndrome?

Pfeiffer syndrome is a rare form of — the early closing of one or more of the soft, fibrous seams (sutures) between the skull bones. Pfeiffer is pronounced FY-fer.

The affects how your baby’s head, face, hands and feet look and work. Having fused skull bones may increase pressure on your baby’s growing brain.

Pfeiffer syndrome is very rare. Doctors estimate it happens in 1 in 100,000 newborns. It is named for Dr. Rudolf Arthur Pfeiffer, who first described the syndrome’s pattern of features in 1964.

Children with Pfeiffer syndrome need coordinated care by providers from many areas of healthcare. At Seattle Children’s Craniofacial Center, our team has experts from 19 different specialties to provide the care that’s best for your child.

What causes Pfeiffer syndrome?

Pfeiffer syndrome happens because of a change (variant) in a that affects how craniofacial bones form. Almost always, it is caused by changes in the FGFR2 gene (fibroblast growth factor receptor 2). There are 3 types of Pfeiffer syndrome. About 5% of cases of type 1 Pfeiffer syndrome are caused by changes to the FGFR1 gene.

Most children with Pfeiffer syndrome have it because of a new genetic change that was not passed on from their mother or father. Less often, a parent passes the gene variant to a child.

Pfeiffer Syndrome Care at Seattle Children’s

When it comes to diagnosing and treating craniofacial conditions, our team is among the most experienced in the world. No matter how rare the condition or syndrome, we have likely cared for someone like your child.

What are the symptoms of Pfeiffer syndrome?

Pfeiffer syndrome will likely affect your baby’s head, face, hands and feet. Symptoms vary among the 3 types of the syndrome. Type 1 is the mildest form.

Head
Many babies with Pfeiffer syndrome have a flat forehead, and their skull is tall and narrow.
- Children with types 1 Pfeiffer syndrome and 3 Pfeiffer syndrome 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 Kleeblattschaedel).
Drawn by Raymond Sze
These changes result from the early closure of the sutures. Pfeiffer syndrome usually affects both coronal sutures along the sides of the skull (bicoronal synostosis). Any or all sutures may be involved.

Normally, the sutures expand 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.
Face
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). They may have problems with breathing and chewing because the middle of their face didn’t develop fully (midface hypoplasia).
Bones and joints
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.
- In types 2 and 3, elbows and knees that are very stiff and hard to move because the bones in the joint are fused. This is called ankyloses.
- In type 2, differences in the bones in the spine, especially the tailbone.
Development
- Children with type 1 usually have normal .
- Many children with types 2 and 3 have delayed development.

How is Pfeiffer syndrome diagnosed?

To diagnose this condition, the doctor will examine your child carefully. The skull shape will help the doctor tell if any sutures have fused.

Your child’s facial features will help the doctor tell if they have Pfeiffer syndrome or another condition.

Your child may need of their spine, arms, hands, legs and feet to confirm the diagnosis. A of the skull can give the doctor more information and help us plan the best treatment for your child.

Genetic counseling and testing

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

A genetic counselor will also 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 it. A person with this syndrome has a 50% chance in each pregnancy of passing down the gene that causes the condition.

How is Pfeiffer syndrome treated?

There is no single care plan for Pfeiffer syndrome. The treatments and timing we recommend depend on how the syndrome affects your child. Based on your child’s needs, our specialists provide a wide range of services to help with breathing, brain health, vision, skull and face shape, hearing, spinal curves, cognitive development, jaw and teeth alignment and other concerns.

Our goal is to reduce the number of steps in the treatment plan by improving the outcome of each step. We want your child to have as normal a life as possible, with plenty of time away from the hospital.

3-D imaging is a powerful tool to help us predict future growth. Our surgery and orthodontic corrections take into account continued growth of your child’s bones. This way, when your child is finished growing, their bones are in the desired position.

Assessing breathing

Our first priority is to make sure your child is breathing well. It might be hard for them to breathe because of differences in the bones in their jaw or midface or a windpipe that’s not typical.

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

Later, your child will likely have surgery to move 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 their heart and lungs work. It also can add to problems with learning and behavior.

We will ask questions during clinic visits to check if this may be a problem. To better understand their breathing patterns, we may monitor your child overnight in our sleep lab.

The treatment options and timing will depend on your child.
A healthy brain with room to grow

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 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 (distraction osteogenesis).

Some children have a different procedure instead, such as posterior cranial vault expansion or strip craniectomy. These are other ways to give their brain more room to grow. Your child’s team will explain which procedure we recommend and why.
Checking fluid build-up and pressure in the skull
Some children with Pfeiffer syndrome have an abnormality in the back of the brain (). It can cause increased fluid build-up () in the brain and other complications. If it causes problems, your child may need surgery.

Your child’s team will check for signs of fluid build-up and increased pressure in the skull. These problems may happen when your child is a baby or as they grow.
- 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 the body can absorb it.
- 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.
Protecting the eyes and reshaping the skull
In some children with Pfeiffer syndrome, their eyeballs stick out so much they cannot close their eyes. This can lead to eye damage from dryness. Lubricants and eye drops can help keep your child’s eyes moist and prevent scarring.

To protect their eyes, your child will need surgery that helps reshape the front of their skull. This also allows space for your child’s brain to keep growing.
- One option is fronto-orbital advancement. It brings your child’s eyebrow bone area forward and shortens their high forehead.
- Children may need monobloc frontofacial advancement if they have severe airway blockage and their skull doesn't protect their eye well. 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, children have the procedure when they’re 1 to 2 years old.
Improving breathing and appearance

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 typical.
Managing hearing loss
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.

Your baby will have a hearing screening 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 do the tests.

As your child grows, they will have other hearing tests based on their age, ear health and hearing history.

Our ear, nose and throat specialist (otolaryngologist) and audiologist will talk with you and your child about hearing. This includes:
- If your child can benefit from hearing aids
- How to prevent further hearing loss
- The best place to sit in the classroom, when your child reaches school age
Evaluating the spine

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).
Developmental assessment and support

Children with type 1 Pfeiffer syndrome usually have typical cognitive development. 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.

Your child’s craniofacial pediatrician and social worker can refer you to community resources for children with developmental issues.
Dental care and bite alignment
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 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 teeth do not fit together well when their face bones have finished growing. Usually, this happens at 16 years for girls and 18 years for boys.
- Braces to hold the teeth after jaw surgery until they settle in their new position.

Why choose Seattle Children’s for Pfeiffer syndrome treatment?

Each year, Seattle Children’s Craniofacial Center cares for hundreds of children with craniosynostosis, including 2 or 3 new patients with Pfeiffer syndrome. Our team has more experience caring for children with craniosynostosis than any other center in the United States. We have experts in every field your child might need.

Many of our patients are newly diagnosed babies. We also work with children who received their initial care at another hospital. We treat children, teens and young adults up to age 21 and sometimes beyond.

The right treatment at the right time: Our experience helps us find problems early and take steps to prevent or treat them. We watch carefully for problems with your child’s breathing, eating, vision, hearing and development and recommend care for any issues they have.
Better results with fewer surgeries: Our approach helps children with Pfeiffer syndrome get the most benefit from surgeries early in childhood. As a result, later in life, some surgeries are either not needed or are less extensive.
Team-based care from experts: We’ll bring together all the team members your child needs, such as a craniofacial , nurse, , , craniofacial , pediatric , feeding therapist, , eye doctor (), ear, nose and throat doctor (), , , and .
Support for your whole family: A diagnosis of Pfeiffer syndrome can be scary. We take time to explain your child’s condition. We help you understand your child’s treatment options and make the choices that are right for your family.
Research to improve care: Our team created a clinical care pathway to guide treatment for craniosynostosis based on research about what is most effective. Our research is helping us to:
- Better understand the genetic causes of craniosynostosis
- Study how the condition affects learning and behavior
- Build a library of 3-D images to better measure the results of surgery and improve treatments