Pfeiffer Syndrome

A rare health condition in which the shape of the skull and face of a baby is negatively affected is called Pfeiffer syndrome. When a baby is born the top of the skull is not a solid piece because it is made from certain joints and bones connected between them. Therefore, the brain has room to grow and the skull bones connect together when the head reaches its full size. This disease makes these joints and bones get together too early. As a result, the skull cannot expand when the brain grows and it impacts the shape of the face and head.

Usually, it is advised to start the treatment right after birth but it depends on the child’s symptoms.

What Are The Types of Pfeiffer Syndrome?

Experts classified this syndrome into three types. The first type is considered mild while types 2 and 3 are more severe. However, all types negatively affect the child’s appearance. The severe forms of Pfeiffer syndrome often provoke problems with the brain, mobility, and nervous system.

Type 1

This is the mildest type of Pfeiffer syndrome and it is known as a classic form of this genetic disease. The most common symptoms include sunken cheekbones, facial deformities, large thumbs, and big toes. If people receive proper treatment, their life expectancy is average compared to those without this genetic disorder. In some cases, people may develop hearing loss and hydrocephalus (build-up of fluid in the brain).

Type 2

The second Pfeiffer syndrome type is more severe and without treatment can lead to death. Babies with this type experience more fusion of the skull bones. Therefore, it leads to joint stiffness and certain abnormalities in the hands and feet. They also can have a wide forehead and sunken midface. In addition, this type of Pfeiffer syndrome can also provoke fluid build-up in the brain and developmental and neurological problems.

Type 3

This Pfeiffer syndrome type is very similar to type 2 but the only difference is that the skull does not bulge at the front and sides. A shortened base of the skull and preset teeth are other symptoms that can appear in babies with this genetic condition type. The third type of Pfeiffer syndrome can also be fatal without treatment.

Causes

Mostly, Pfeiffer syndrome is provoked by a genetic mutation in the genes that are responsible for controlling the growth and death of some cells. Moreover, this condition can pass from biological parents to biological children. However, parents do not have this syndrome in most cases.

Furthermore, genetic mutation affects how some proteins are produced and their function while a female is pregnant. Thus, these proteins can lead to a fuse of the baby’s skull before the brain reaches its full size. As a result, it puts a lot of pressure on the closed skull bones which leads to changes in the skull shape.

Symptoms

Commonly, the symptoms are different among people because it depends on the severity of the condition and other factors. This genetic disease can impact the head and face, fingers and toes, joints, and even other parts of the body. Check below some examples:

Head and Face

  • Sunken midface
  • Small upper jaw
  • High forehead
  • Short head (from front to back)
  • Crooked or crowded teeth
  • Bulging eyes
  • Wide/flat nose

Fingers and Toes

  • Short toes and fingers
  • Wide thumbs and big toes
  • Webbed fingers and toes

Other Symptoms

  • Cleft palate
  • Feeding problems
  • Dental problems
  • Acid reflux
  • Joint stiffness (including elbows)
  • Speech problems
  • Sleep apnea
  • Vision changes
  • Developmental delays
  • Nervous system and brain development issues

In case you notice your baby experiences any of the previous symptoms, immediately contact your healthcare professional.

Diagnosis

Healthcare providers can diagnose this genetic disorder during pregnancy with ultrasound or MRI (magnetic resonance imaging). After birth, usually, a physical examination is enough to determine whether your child has this condition or not. However, physicians can order to do some tests, to confirm that is not another medical condition. Examples include:

  • X-rays
  • CT scan
  • Genetic tests

Consult with your doctor if you suspect your child has this condition.

Treatment

The treatment usually depends on the Pfeiffer syndrome type and symptoms your baby experiences. It also can include doctors, surgeons, psychologists, speech and language therapists, and others. Usually, surgery plays a key role in the Pfeiffer syndrome treatment.

Surgery

Approximately all children with this genetic condition experience some surgeries to reshape the skull before 18 months old. This helps them to reduce pressure and fluid buildup and create space for the brain to grow. However, for children under 3 months old, the surgery involves small openings that prevent the skull bones from fusing together. Surgeons use traditional surgery to open the skull and make more space for the brain to grow. Usually, children will require 2-4 skull surgeries during their lifetime. Additionally, physicians will order your children to wear a special helmet that will help the skull heal in the correct shape.

Midface Surgery

There are some children who require midface surgery to fix jaw problems. This procedure is done often when children are at least 6 years old.

Breathing Problems Treatments

Some people may experience sleep apnea and breathing problems due to skull shape deformation. Therefore, they may need additional treatment to treat trouble breathing. For example:

  • A special mask during sleeping
  • Midface surgery
  • The surgeons can also remove the tonsils and adenoids

Tracheostomy is another treatment option that is commonly performed by surgeons in severe cases. They make an opening in the child’s neck to allow easier breathing.

Other Treatments

  • Physical therapy
  • Special therapy that will help to improve speech and language learning
  • Treatments for vision changes
  • Surgery to improve hearing
  • Dental work
  • Surgery to correct problems with toes and fingers

Complications

People with Pfeiffer syndrome may develop certain complications, especially if they are not treating it. For example:

  • Hydrocephalus
  • Dental problems
  • Hearing loss
  • Limited mobility
  • Sleep apnea
  • Breathing problems (usually a symptom of sleep apnea)
  • Vision changes
  • Learning problems

Consult with your doctor for more details.

Frequently Asked Questions

How common is Pfeiffer syndrome?

This genetic disease is considered quite rare because it occurs in approximately 1 out of every 100,000 newborns.

Who is at risk of developing Pfeiffer syndrome?

The second and third type of Pfeiffer syndrome happens due to new genetic mutations. The risk that children will develop this condition increases as biological parents are older. In case the biological parents have this genetic condition the chance that it will pass to their children is approximately 50% for each pregnancy.

Is it possible to cure Pfeiffer syndrome?

Unfortunately, it is not possible to cure this condition but if children with the first type of Pfeiffer syndrome receive treatment they have an average life expectancy compared to those without this disease.

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