Pfeiffer Syndrome: Resources For The Family

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Pfeiffer Syndrome

“Miracle foster mom adopts twins with rare genetic condition” was the headline in an August 2017 article in the New York Post. Twins Matthew and Marshall were diagnosed with Pfeiffer syndrome type II, and they were adopted by their foster mom after the twins’ parents were unable to care for them.1

What is Pfeiffer syndrome?

Pfeiffer syndrome was first documented in a family over several generations in a study published in 1964.2 It is a rare genetic disorder that occurs in 1 out of every 100,000 births.3 It causes premature fusion of bones in the skull, which results in a large head with an abnormal shape and high forehead. There are three types of Pfeiffer syndrome:

  • type I (classic)
  • type II, and
  • type III

Types II and III are the most severe.

The syndrome is characterized by additional signs such as protruding and widely spaced eyes, hearing loss, dental issues, short or webbed thumbs and toes, and underdeveloped face and jaw structure. Pfeiffer syndrome type I usually does not affect intelligence and children have a normal lifespan.3,4

Other names for Pfeiffer syndrome:
  • Acrocephalosyndactyly (ACS 5, ACS V)
  • Noack syndrome
  • Craniofacial-skeletal-dermatologic dysplasia

Source: National Organization for Rare Disorders3

Common signs of Pfeiffer syndrome:
  • Wide, high forehead and short head from front to back
  • Broad thumbs and big toes
  • Wide-set, bulging eyes due to shallow eye sockets
  • Unusually small upper jaw and midface
  • Small, beak-shaped nose
  • Crowded, crooked teeth
  • Hearing loss
  • Partially fused or webbed, or unusually short, broad fingers and toes
  • Sleep apnea

Adapted from Children’s National Health System, Washington, D.C. and FACES: The National Craniofacial Association

The most prominent sign of Pfeiffer syndrome type II is a “tri-lobe” or “cloverleaf” skull (see Computer Tomography image below). Type II and type III forms of the syndrome are similar in that they have more severe and exaggerated symptoms than type I; type III is not characterized by a “cloverleaf” skull. Both type II and III are associated with developmental delay and poor mental capacity.3 Genetic disorders such as Pfeiffer syndrome can be passed down to children through parents. Pfeiffer syndrome type II and III are thought to be caused by newly developed changes in DNA. Although the cause of the mutations in DNA contributing to Pfeiffer syndrome is unknown, older paternal age is one risk factor for developing new genetic mutations.3 Diagnosis of Pfeiffer syndrome can be made based on symptoms, imaging, or genetic testing.3 The use of ultrasound during pregnancy may identify the disorder, but it is most often diagnosed after birth.2,5

Pfeiffer syndrome is similar to other genetic disorders such as Apert syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Beare-Stevenson syndrome, and Muenke syndrome.3

Pfeiffer syndrome type II and III can be more life-threatening and require earlier treatment.3 Treatment may include cranial surgery to relieve pressure within the skull and correct the skull deformity; plastic and reconstructive surgery to correct facial and skeletal deformity; and airway support. Cranial surgery is performed as early as three months after birth; facial surgery may be performed when the child is older.2 Physical therapy and vocational therapy may also be recommended.3 Diligent and continued treatment may decrease adverse effects seen with type II and III.6

There are multiple resources for children affected by Pfeiffer syndrome and their parents.

 

 

 

 

 

 

 

 

Babies with type 2 Pfeiffer syndrome tend to be born with something known as ‘cloverleaf skull malformation’, with severely protruding eyes, a flat midface, beak-shaped noses, and downward-pointing ears.

Additional resources:

 

References:

Lauren McMahan
Dr. Lauren McMahan has a Doctor of Pharmacy from Lipscomb University College of Pharmacy in Nashville, TN. She currently works for a large national healthcare company, where she provides her research and writing expertise to support evidence-based initiatives to improve patient care. She enjoys exercising, reading, and thrifting in her spare time.

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