What is Pfeiffer Syndrome?

Pfeiffer syndrome is a rare birth defect 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 actually 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 it full size.

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

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, as well as other issues with the brain and nervous system.

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

What Causes It?

Pfeiffer syndrome is caused by a glitch 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. The baby’s genes have a change that seems to happen out of the blue.

What Are the Symptoms?

They vary based on the type and how severe it is. It can affect the head and face, fingers and toes, and a number of other areas.

Head and face: Signs of it often show most clearly here. This is partly because the skull can’t expand as it typically does. But Pfeiffer syndrome also affects bones in the mid-face, from the eyes to the mouth, which don’t grow as far forward as usual.

When your child has the condition, you might see:

• A beaked-shaped nose
• Crowded, crooked teeth
• Eyes that appear larger and set wider apart than normal
• A head that’s short from front to back
• A high forehead
• 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
• Acid reflux
• Sleep apnea (when you briefly stop breathing or take shallow breath many times a night)
• Vision problems

Types 2 and 3

Children with Pfeiffer syndrome types 2 and 3 often have delayed development and other issues with the brain and nervous system.

Without early treatment, they’re also more likely to have life-threatening health problems.

Diagnosis

A doctor can often tell whether your child has Pfeiffer syndrome from a physical exam as they check the skull, thumbs, and big toes.

To make sure it’s Pfeiffer 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 glitch that causes it)

Treatments

Your child's treatment depends on the signs and symptoms. 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 surgery to reshape their skull before they’re 18 months old.

For children under 3 months, this can be done with very small openings in the head. For older children, doctors use traditional surgery. Typically, children will need two to four skull surgeries over the course of their lives.

Midface surgery: Some children may need it 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:

• Your child can wear a special mask while sleeping. It’s called a “continuous positive airway pressure mask” -- 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
• Therapy to help with speech and language learning

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