What Is Pfeiffer Syndrome?

Medically reviewed by Karen Gill, MD on September 28, 2017Written by Tim Jewell on September 28, 2017

Overview

Pfeiffer syndrome happens when the bones in your child’s skull, hands, and feet have fused together too soon in the womb because of a gene mutation. This can cause physical, mental, and internal symptoms.

Pfeiffer syndrome is extremely rare. Only about 1 in every 100,000 children are born with it.

Pfeiffer syndrome is often treated successfully. Read on to find out more about Pfeiffer syndrome, what causes it, and how your child can be treated.

What are the types of this condition?

There are three types of Pfeiffer syndrome.

Type 1

Type 1 is the mildest, and by far the most common, type of this syndrome. Your child will have some physical symptoms, but won’t usually have issues with their brain function. Children with this type can live to be an adult with few complications.

Your child may be born with some of the following symptoms:

  • ocular hypertelorism, or eyes that are far apart
  • forehead that looks high on their head and bulges out due to the skull bones fusing early
  • brachycephaly, or flatness of the back of the head
  • lower jaw that juts out
  • hypoplastic maxilla, or an upper jaw that hasn’t fully developed
  • wide, large thumbs and big toes that spread away from the other fingers and toes
  • difficulty hearing
  • having tooth or gum issues

Type 2

Children with type 2 may have one or more severe or life-threatening forms of type 1 symptoms. Your child may need surgery so that they survive into adulthood.

Other symptoms include:

  • head and face bones have fused early and make a shape called a “cloverleaf”
  • proptosis or exophthalmos, which happens when your child’s eyes protrude out of their eye sockets
  • delays in development or learning disabilities because the early fusion of skull bones may have stopped your child’s brain from fully growing
  • fusion in other bones, such as the elbow and knees joints, called ankylosis
  • being unable to breathe properly because of issues with the trachea (windpipe), mouth, or nose
  • issues with the nervous system, such as fluid from the spine gathering in the brain, called hydrocephaly

Type 3

Your child may have severe or life-threatening forms of the symptoms of types 1 and 2. They won’t have a cloverleaf skull, but can have issues with their organs, such as the lungs and kidneys.

Early skull bone fusion can lead to learning or cognitive disabilities. Your child may need extensive surgery throughout their life to treat these symptoms and survive to adulthood.

What causes this condition?

Pfeiffer syndrome happens because the bones that form your child’s skull, hands, or feet fuse together too early while they’re in the womb. This is what causes your child to be born with an abnormally shaped skull, or with fingers and toes that are spread apart wider than usual.

This can leave little room for the brain or other organs to grow all the way, which can lead to complications with:

  • cognitive function
  • breathing
  • other important bodily functions, such as digestion or movement

Who gets this condition?

Type 1 Pfeiffer syndrome is caused by a mutation in one or more genes that are part of a child’s bone development.

Only one parent needs to carry the gene to pass it down to their child, so their child has a 50 percent chance of inheriting the condition. This is known as an autosomal dominant pattern. Type 1 Pfeiffer syndrome can be either inherited in this way or come from a new genetic mutation.

Research suggests that type 1 is caused by a mutation in one of the two fibroblast growth factor receptor genes, FGFR1 or FGFR2. Types 2 and 3 are almost always caused by a mutation in the FGFR2 gene, and are new (spontaneous) mutations, rather than inherited.

Research also suggests that sperm from older men are more likely to mutate. This can cause Pfeiffer syndrome, especially types 2 and 3, to happen without warning.

How is this condition diagnosed?

Your doctor can sometimes diagnose Pfeiffer syndrome while your child is still in the womb by using ultrasound images to see early fusion of the skull bones and symptoms of your child’s fingers and toes.

If there are visible symptoms, your doctor will usually make a diagnosis when your child is born. If your child’s symptoms are mild, your doctor may not diagnose the condition until a few months, or even years, after your child is born and starts growing.

Your doctor may suggest that you, your partner, and your child get genetic testing to check for mutations on the FGFR genes that cause Pfeiffer syndrome, and to see who carries the gene.

How is this condition treated?

About three months after your child is born, your doctor will usually recommend surgery in several stages to reshape your child’s skull and release pressure on their brain.

First, the gaps between the different bones in your child’s skull, known as the synostotic sutures, are separated. Then, the skull is reconstructed so that the brain has room to grow and the skull can take on a more symmetrical shape. Your doctor will also give you a long-term treatment plan to make sure your child’s teeth are taken care of.

Once your child has healed from these surgeries, your doctor may also suggest long-term surgery to treat symptoms of the jaw, face, hands, or feet so they can breathe as well as use their hands and feet to move around.

Your doctor may need to do emergency surgery shortly after your child is born to allow your child to breathe through their nose or mouth. They’ll also make sure the heart, lungs, stomach, and kidneys can function normally.

Living with Pfeiffer syndrome

There’s a good chance that your child will be able to play with other children, go to school, and survive to adulthood with Pfeiffer syndrome. Type 1 Pfeiffer syndrome is treatable with early surgery, physical therapy, and long-term surgery planning.

Type 2 and 3 don’t happen very often. Like Type 1, they can often be treated with long-term surgery and reconstruction of your child’s skull, hands, feet, and other bones and organs that may be affected.

The outlook for children with type 2 and 3 aren’t as good as that for type 1. This is because of the effects that the early fusion of your child’s bones can have on their brain, breathing, and ability to move.

Early treatment, along with lifelong physical and mental rehabilitation and therapy, can help your child live to be an adult with only some complications involving their cognitive function and mobility.

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