Pfeiffer syndrome is a rare genetic condition that causes the premature fusing of the skull, resulting in an abnormal shaping of the face and head. It also affects the hands and feet.

The cause of Pfeiffer syndrome is a mutation of the genes responsible for prenatal bone development. This mutation speeds up bone development, causing the skull to fuse prematurely. There are three subtypes of Pfeiffer syndrome, with types 2 and 3 being the most severe.

Treatment begins at birth once an accurate diagnosis is made. No treatments can reverse Pfeiffer syndrome, but treatment can manage specific symptoms of this condition.

Fast facts on Pfeiffer syndrome:

  • According to American Journal of Medical Genetics, Pfeiffer syndrome affects about 1 in 120,000 births.
  • Pfeiffer syndrome is the result of an inherited autosomal dominant gene mutation or a new gene mutation.
  • There are three subtypes of Pfeiffer syndrome, classified by severity.
  • Surgery is central to the treatment of Pfeiffer syndrome.
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As a baby develops in the womb, the skull bones fuse together. In Pfeiffer syndrome, these bones fuse too early.

Typically, a child’s skull bones would come together only after the head has reached its full size. But in the case of Pfeiffer syndrome, the plates pull together too soon, and the skull cannot expand in time with the growing brain, which causes abnormal face and head shaping.

Babies born with Pfeiffer syndrome may also have bulging eyes, high foreheads, beaked noses, and sunken mid-faces. Their fingers and toes might be webbed, or short and wide.

Autosomal genetic disorders only require a single copy of an atypical gene to cause the disorder. The atypical gene may be inherited from one parent, or it can result from a new gene mutation in the child.

The majority of people with Pfeiffer syndrome develop it from a new mutation because neither parent has a gene mutation that could be passed on. According to the National Craniofacial Association, a parent with Pfeiffer syndrome has a 50 percent chance of passing the condition on to their child.

There are 3 subtypes of Pfeiffer syndrome:

Type 1

Type 1 Pfeiffer syndrome is characterized by premature fusion of the skull, finger and toe abnormalities, and sunken cheekbones. A child’s neurological development and intellectual ability are usually on a par with other children.

People with type 1 Pfeiffer syndrome may have fluid buildup in the brain and hearing loss. Because type 1 is a more mild form of Pfeiffer syndrome, individuals with this form of the disease have normal lifespans, provided the condition is successfully treated.

Type 2

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There are three types of Pfeiffer’s syndrome. Diagnosis is usually made using imaging techniques such as MRI scans or X-rays.

According to a report in the Orphanet Journal of Rare Diseases, people with type 2 Pfeiffer syndrome have cloverleaf-shaped skulls, resulting from the excessive fusion of the skull bones.

There may also be:

  • abnormal eye protrusions, which may affect vision
  • fused elbow joints
  • fused knee joints
  • finger abnormalities
  • toe abnormalities
  • developmental delays
  • neurological complications

Type 2 causes severe neurological deficits, has a poor prognosis and often results in early death.

Type 3

Type 3 Pfeiffer syndrome causes the same kinds of disabilities as type 2, except for the cloverleaf skull. The outlook for people with type 3 Pfeiffer syndrome is also often poor and may result in early death.

In addition to physical abnormalities, including skull fusion, fused elbow and knee joints, and finger and toe disabilities, Pfeiffer syndrome may also cause the following symptoms:

  • bulging or wide-set eyes
  • high forehead
  • beaked nose
  • underdevelopment or overdevelopment of the jaws
  • dental problems
  • hearing loss
  • problems with brain development and other neurological deficits in types 2 and 3
  • developmental delays in types 2 and 3

Symptoms vary among individuals.

A diagnosis of Pfeiffer syndrome is made using imaging studies and a physical exam to confirm the presence of premature bone fusions in the skull, fused elbow and knee joints, and finger and toe abnormalities.

Other genetic conditions may need to be ruled out, and doctors will usually carry out molecular genetic testing to confirm gene mutations.

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Surgery is usually required to treat Pfeiffer syndrome. Several surgical procedures may need to be performed during infancy.

Children with Pfeiffer syndrome often endure multiple complex surgeries to repair skull and joint deformities.

Surgery to release the prematurely fused skull is undertaken within the child’s first year of life to promote the normal brain and skull growth.

Surgeons can also repair the child’s eye sockets at the same time to preserve their vision. Other face structure surgery, including the cheekbones and jaws, and surgery on the child’s webbed hands and feet, are carried out when the child is older.

Some children will need treatments to manage their breathing problems, which may involve:

  • Surgery to release blockages of the mid-face.
  • Surgery to remove tonsils or adenoids (glands located in the roof of the mouth that protect against infection).
  • Continuous positive airway pressure (CPAP) therapy involving the use of a special mask while sleeping.
  • A tracheostomy is carried out in severe cases. A tracheostomy is a surgical opening through the front of the neck and into the trachea (windpipe).

Some children may need dental work to repair teeth and underbites. Others may need speech and language therapies.

People with type 1 Pfeiffer syndrome can have normal lifespans, provided they do not suffer from disease complications and undergo successful treatment.

People with types 2 and 3 have severe forms of this disorder and tend to have shorter life expectancies due to respiratory problems and neurological complications.

Effective treatments tend to revolve around surgery.