What Is Pfeiffer Syndrome?

Pfeiffer syndrome is a rare genetic disorder that can cause skeletal deformities and affects less than 1% of individuals out of 100,000. It has three types—the second and third types being more severe forms of the disorder.

The condition can lead to changes in other physical features and additional health problems. Depending on the type, there are also some differences in symptoms of and prognosis for Pfeiffer syndrome. Treatment for the disorder is limited but available.

Types of Pfeiffer Syndrome

There are three types of Pfeiffer syndrome.

Type 1

Type 1 is known as classic Pfeiffer syndrome. Most individuals with type 1 will have a normal life span and level of intelligence.

Type 2

Type 2 is one of the more severe types of the condition. In infants with Pfeiffer syndrome type 2, the fusion of several bones in the skull causes the skull to have a "tri-lobed" appearance. This is called a cloverleaf skull deformity, or Kleeblattschadel type craniosynostosis.

This type also involves problems with the nervous system, mental impairment, and other bodily deformities such as a beak-shaped nose.

Type 3

Pfeiffer syndrome type 3 is similar to type 2, except there is no cloverleaf skull deformity.

Pfeiffer Syndrome Symptoms

Babies with Pfeiffer syndrome can be born with:

• A beaked nose
• Bulging, wide-set eyes
• Bulging lower jaw
• Cleft palate
• Displaced ears
• A high forehead
  
• Incomplete upper jaw bone development
• Natal teeth
• A sunken mid-face
• Tracheal cartilaginous sleeve (TCS), an airway issue
• Webbed or unusually short and wide fingers and toes

More than half of all children with Pfeiffer syndrome have hearing loss, and dental problems are also common.

What Causes Pfeiffer Syndrome?

In the United States, Pfeiffer syndrome is estimated to affect less than 50,000 people.Pfeiffer syndrome is caused by a mutation in one of two genes involved in prenatal bone development.

As a result of that mutation, bone production speeds up, and bones in the skull fuse together prematurely. The baby's brain growth becomes limited or slowed, and the outcome is a misshapen skull.

Risk Factors

Pfeiffer syndrome is what's known as an autosomal dominant disorder, which means that either parent can pass the mutation onto their offspring. 

If one parent has Pfeiffer syndrome, there is a 50% chance that each child will be born with the disorder. It can also result from a new mutation in which neither parent is a carrier. 

New mutations are responsible for nearly all instances of Pfeiffer syndrome type 2 and type 3. Babies with older fathers seem at increased risk of those random genetic mutations.

So while healthcare providers may suspect a fetus carries genetic abnormalities, they may not know for sure until after childbirth.

How Is Pfeiffer Syndrome Diagnosed?

Diagnosis of Pfeiffer syndrome is based on a clinical evaluation where a provider looks for evidence of the physical symptoms listed above. In suspected cases of Pfeiffer syndrome, genetic testing is required to analyze any gene mutations.

The condition is difficult to diagnose via ultrasound. However, ultrasounds have been suggested as a screening method to look for indications of TCS.

Treatments for Pfeiffer Syndrome

Treatment is directed by each child's specific symptoms and is multidisciplinary. It may require the coordinated efforts of a healthcare team comprised of providers such as:

• Pediatricians
• Surgeons
• Ears, nose, and throat physicians, known as otolaryngologists
• Neurologists
• Audiologists

Treatments are mainly focused on symptomatic and supportive surgical procedures. There may be early reconstructive surgeries recommended to correct issues concerning the skull and face. A tracheostomy may be necessary for children with malformed airways.

Other things included in treatment may be:

• Hearing aids
• Physical therapy
• Orthopedic measures
• Social support
• Medical, social, or vocational services

How To Prevent Pfeiffer Syndrome

Genetic counseling is the only preventative measure regarding Pfeiffer syndrome.

Genetic counseling provides information about genetic conditions and their possible or previous effects on someone and their family. They can help a person identify or address concerns about factors that might affect a baby before pregnancy occurs.

Comorbid Conditions

Some comorbid conditions when it comes to Pfeiffer syndrome are ones such as:

• Chiari type 1 malformation: The bottom part of a person's brain presses on and through a skull opening
• Obstructive sleep apnea: Caused by malformed airways
• Hearing loss: Due to repeat ear infections or an underdeveloped middle ear
• Vision problems: A result of muscle imbalances or increased pressure within the skull

Related Conditions

Pfeiffer syndrome is also similar to other conditions, including:

• Apert syndrome
• Crouzon syndrome
• Muenke syndrome
• Saethre-Chotzen syndrome
• Jackson-Weiss syndrome
• Antley-Bixler syndrome

In general, these are all genetic disorders with bone deformities in the face or skull as a primary characteristic.

Living with Pfeiffer Syndrome

Most babies do not die from type 1 Pfeiffer syndrome, and the prognosis for intellect is usually good. However, babies with type 2 or type 3 often experience life-threatening conditions, and childhood death occurs more often with these types.

The life-threatening issues include impaired mental development and neurological or hypoxia due to breathing problems. And without appropriate treatment, those physical abnormalities may lead to complications during infancy.

As with type 2, individuals with type 3 often experience impaired mental development and severe neurological problems and may develop potentially life-threatening complications early in life without appropriate treatment.

A Quick Review

Pfeiffer syndrome is a rare genetic disorder that affects bone development and physical features. There are three types of the condition—types 1, 2, and 3—and type 1 is considered the mildest form. The syndrome is usually diagnosed by a healthcare provider observing a child's physical features and genetic testing.

Some children with Pfeiffer syndrome may have other issues like sleep apnea or vision problems. Treatments, though limited, are available. A treatment plan may include a variety of providers in an effort to support the child in various ways.