Pfeiffer Syndrome: Symptoms and Treatment

Medically Reviewed by Jabeen Begum, MD on March 22, 2024
8 min read

Pfeiffer syndrome is a rare birth condition that affects the shape of a baby’s skull and face.

When you’re born, the top of your skull isn’t one solid piece. It’s made up of several bones with special joints between them. This allows it to expand so your brain has room to grow. Normally, the skull bones come together only after your head reaches its full size.

But with this syndrome, the plates join together too early. The fetus's skull can’t expand as the brain grows, which affects the shape of their head and face.

Treatment starts soon after birth. Because the condition varies among people, the right care depends on your child’s symptoms.

There are three types of Pfeiffer syndrome. All of them affect a child’s appearance, but types 2 and 3 are more severe. They can cause delays in development and learning differences, as well as other issues with the brain, mobility, and nervous system.

Pfeiffer syndrome type 1

This is known as classic Pfeiffer syndrome. It is the mildest type of this genetic condition. Symptoms include sunken cheekbones, facial deformities, and larger thumbs and big toes. People with type 1 Pfeiffer syndrome have an average life expectancy with treatment. They may develop fluid buildup in the brain (hydrocephalus) and hearing loss.

Pfeiffer syndrome type 2

This type of Pfeiffer syndrome is more severe. It can be fatal without treatment. Babies with this condition have more fusion of their skull bones, which results in more complex bone growth problems, joint stiffness, and abnormalities in their hands and feet. Their skulls have a cloverleaf shape (bulging at the front and sides). They may have a high, wide forehead, and their midface (the area from their eyes to their mouths) may appear sunken. Their nose looks “beak-like,” and their eyes are wide-set and protrude from their sockets (ocular proptosis). Their ears may angle downward. Type 2 Pfeiffer syndrome also causes fluid buildup in the brain, neurological problems, and developmental disabilities.  

Pfeiffer syndrome type 3

This condition is very similar to Pfeiffer syndrome type 2, except the baby's skull doesn’t bulge at the sides and front. Other symptoms include having teeth at birth and a shortened base of the skull. It can also be fatal if not treated.

Pfeiffer syndrome is caused by a mutation in the genes that control how certain cells grow and die.

It can be passed from a parent to child, but in most cases, the parents don’t have the syndrome. Usually, the baby’s genes have a change that happens out of the blue.

This gene mutation affects how certain proteins are made and function during pregnancy. As a result, these proteins may instruct your baby's skull bones to fuse before their brain has grown to full size. This puts a lot of pressure on their brain and closed skull bones, which causes the bones to change shape and creates other problems in the body. The bones of their hands and feet may also fuse too early.

Symptoms vary from child to child based on the type and how severe it is. It can affect the head and face, fingers and toes, joints, and other areas of the body.

Head and face

Signs of it often show most clearly on a child's head and face. This is partly because their skull can’t expand as it typically does. But Pfeiffer syndrome also affects bones in the mid-face, from their eyes to mouth, which don’t grow out as far forward as usual.

When your child has the condition, you might see:

  • A wide, flat nose that curves down at the tip
  • Crowded, crooked teeth
  • Wide-set, bulging eyes
  • A head that’s short from front to back
  • A high forehead
  • A sunken midface
  • A very small upper jaw

Fingers and toes

It’s also common for children to have:

  • Short fingers and toes
  • Thumbs and big toes that are wider than normal and bend away from the other fingers and toes
  • Webbed fingers and toes

Other problems

More than half of children have hearing loss. Some also have:

  • Dental problems
  • Feeding problems
  • Cleft palate
  • Stiffness in the joints, such as elbows
  • Acid reflux
  • Speech problems
  • Sleep apnea (when you briefly stop breathing or take shallow breaths many times a night)
  • Vision problems
  • Developmental delays
  • Problems with their nervous systems and brain development

Your doctor can diagnose your baby's Pfeiffer syndrome during pregnancy using ultrasound or magnetic resonance imaging (MRI). After birth, your doctor can often tell whether your child has the condition from a physical exam as they check the newborn’s skull, thumbs, and big toes.

To make sure it’s Pfeiffer syndrome and not something else, your doctor may also order:

  • X-rays or imaging, like a CT scan, to check the skull
  • Genetic tests (taking a blood or saliva sample to check for the gene mutation that causes it)

Your child's treatment depends on the type of Pfeiffer syndrome and signs and symptoms they have. You might need a team of specialists that includes doctors, surgeons, psychologists, speech and language therapists, and more.

Surgery tends to play a key role in treatment.

Skull surgery

Most children have the first of several surgeries to reshape their skull before they’re 18 months old. This surgery relieves pressure and fluid buildup. It creates more space for the brain to grow and allows excess fluid to drain.

For children under 3 months, this can be done with very small openings in the head that release the bands of tissue fusing the skull bones together. For older children, doctors use traditional surgery to open up the skull and give more space for the brain to grow. Typically, children will need two to four skull surgeries over the course of their lives. Your child will wear a special helmet to help their skull heal in the correct shape. 

Midface surgery

Some children may need midface surgery to correct problems in their jaw and bring their midface bones forward. Children are usually at least 6 before this surgery is done.

Treatment for breathing problems

Some children have blockages that make it hard for them to breathe. This leads to problems such as sleep apnea.

To correct these problems, your doctor may suggest these treatments:

  • Your child can wear a special mask while sleeping. It’s called a “continuous positive airway pressure mask” or CPAP for short. This is a standard treatment for sleep apnea.
  • Midface surgery can help remove blockages.
  • A surgeon can remove the tonsils or adenoids (tissues in the back of the nose that help fight infection).

For severe cases, doctors may do a surgery called a tracheostomy. The doctor creates an opening in the child’s neck directly to the windpipe to allow for easier breathing. It’s done for children too young to have other surgeries to correct breathing problems.

Other treatments

Your child may also need:

  • Dental work to help with issues such as an underbite and teeth that are out of position
  • Surgery to correct finger and toe problems
  • Surgery to improve hearing
  • Hearing aids
  • Treatments to correct vision problems
  • Therapy to help with speech and language learning
  • Physical therapy to improve mobility

Children with Pfeiffer syndrome may develop a variety of complications.

Hydrocephalus. This happens when excess fluid builds up in the child's brain. It's treated surgically.

Dental problems. Changes in the bones of their face impact the placement of a baby's teeth and disrupt their bite (how the jaws fit together). They may need dental work once their teeth start coming in.

Hearing loss. About 50% of children with Pfeiffer syndrome have hearing loss. Surgery or hearing aids can help.

Limited mobility. Walking and other movements may be difficult. Physical therapy and surgery can help with mobility.

Sleep apnea. Underdevelopment of the bones in a baby's midface often block airways. This can make breathing through the nose difficult during sleep. Part of their brain called the cerebellar tonsils can get pressed through an opening in the bottom of the skull (Chiari malformation), which limits the oxygen reaching the brain. Treatments include medication, a special sleep mask, or surgery.

Breathing problems. Problems in the formation of a child's airways can make breathing difficult. Various surgeries may be needed to correct breathing issues. Some children need a tracheostomy (a breathing hole cut directly into the windpipe) to get enough oxygen to the lungs and brain.

Vision problems. Children with Pfeiffer syndrome may have bulging eyes with eyelids that don’t fully close, which can cause dry eyes. Excess pressure on their eyes due to changes in their facial bones and skull can lead to vision loss.

Learning differences. Many children with Pfeiffer syndrome, particularly types 2 and 3, have developmental delays, learning differences, and cognitive impairment. Early interventions, such as surgeries and other therapies, can help improve their health care outcomes.

Type 1 is highly treatable with good outcomes. Children with this condition have the same life expectancy as other children. These kids can grow, learn, and participate in activities like going to school, playing, and developing into independent adults. 

Types 2 and 3 Pfeiffer syndrome are also treatable, but babies with these conditions usually have more challenges, including with movement, breathing, and cognitive function. People with types 2 and 3 Pfeiffer syndrome often need lifelong physical and mental rehabilitation, therapy, and assistance. They tend to have shorter lifespans due to issues with breathing, their brains, and nerves.

Pfeiffer syndrome is usually diagnosed during pregnancy or at birth. Type 1 Pfeiffer syndrome is more mild and types 2 and 3 are more severe. Multiple surgeries and other therapies are usually needed, and early treatment is key to improving a child's outcome. Talk to your doctor about making a treatment plan for your child. 

What is the life expectancy of someone with Pfeiffer syndrome?

The lifespan of a child with type 1 Pfeiffer syndrome is normal. People with types 2 and 3 Pfeiffer syndrome have a shorter life expectancy due to common complications, such as with their respiratory and nervous systems. Pfeiffer syndrome can be fatal if untreated. Children with this condition may require multiple surgeries in their first few years of life. 

Why do a child's eyes bulge with Pfeiffer syndrome?

This happens because the baby's eye sockets are shallow, causing their eyes to stick out. Sometimes, their eyelids don’t close properly as well.

Who is most likely to get Pfeiffer syndrome?

This condition is rare. It happens in about 1 out of every 100,000 newborns.