Pfeiffer syndrome

Pfeiffer syndrome is a rare birth defect that affects the shape of a child's skull and face.

When you were born, the top of your skull was not a solid piece. In fact, it consists of several bones with special connections between them. This allows it to expand so your brain has room to grow. Usually the bones of the skull fuse only when your head reaches its maximum size.

But in this syndrome, the plaques converge too early. The skull cannot expand as the brain grows, which affects the shape of the head and face.

There are three types of Pfeiffer syndrome. All of these affect the baby's appearance, but types 2 and 3 are more serious. They can lead to developmental delay as well as other problems with the brain and nervous system.

Treatment begins shortly after birth. Because the illness varies from person to person, proper care depends on your child's signs and symptoms.

What are the reasons?

Pfeiffer syndrome is caused by a problem in the genes that control the growth and death of certain cells.

It can be passed from parent to child, but in most cases the parents do not have the syndrome. There have been changes in the child's genes that seem to have happened quite unexpectedly.

What are the symptoms?

They vary in type and severity. It can affect the head and face, fingers and toes, and a number of other areas.

Head and face. This is where the symptoms most often show up. This is partly due to the skull not being able to expand as it normally would. But Pfeiffer syndrome also affects the bones in the middle of the face, from the eyes to the mouth, which don't grow as far as they normally would.

When your child has a condition, you may 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: Children also often 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 developmental delays and other brain and nervous system problems.

Without early treatment, they are also more likely to develop life-threatening health problems.

Diagnosis

A doctor can often tell if your child has Pfeiffer syndrome based on a physical exam where they check the skull, thumbs, and toes.

To make sure it's Pfeiffer and not something else, your doctor may also prescribe:

X-rays or images such as CT scans to check the skull
Genetic testing (taking a sample of blood or saliva to look for the genetic error causing it)

Treatment

Treatment for your child depends on the signs and symptoms. You may need a team of specialists, including doctors, surgeons, psychologists, speech therapists, etc.

Surgery usually plays a key role in treatment.

Skull surgery: Most children have their first skull reshaping surgery before the age of 18 months.

For babies under 3 months old, this can be done with very small holes in the head. For older children, doctors use traditional surgery. Typically, children require two to four skull surgeries in their lifetime.

Midface surgery: Some children may need this to correct jaw problems and move the midface bones. Children are usually at least 6 years old before this operation.

Treatment of respiratory diseases: Some children have blockages that prevent them from breathing. This leads to problems such as sleep apnea.

To correct these problems, your doctor may suggest the following:

Your child may wear a special mask while sleeping. This is called a "constant positive pressure mask". This is the standard treatment for sleep apnea.
Surgery of the middle part of the face can help clear blockages.
The surgeon may remove the tonsils or adenoids (tissues at the back of the nose that help fight infection).

In severe cases, doctors may perform a surgical procedure called a tracheostomy.

The doctor makes a hole in the child's neck right up to the windpipe to make breathing easier. This is done for children who are too young for further operations to correct breathing problems.

Other treatments: Your child may also need: