Pfeiffer syndrome was named for German geneticist, Rudolf Arthur Pfeiffer, the first to describe it in 1964.

Pfeiffer Syndrome Characteristics.

Individuals with this syndrome are typically characterized by the following differences:
   -wide head across the front
   -short head from front-to-back
   -flat-looking face due to underdeveloped cheekbones, eye sockets, and lower jaw
   -shallowly-placed, bulging eyes that may be crossed or wide-set
   -small nose with an upwardly-tilted beak shape 
   -broad, short thumbs and big toes

Additional characteristics that may be present include:
   -cleft palate 
   -compromised sound conduction and hearing loss (in about 50 percent of cases)
   -nasal airway obstruction
   -webbing of the fingers of both hands and the toes of both feet

Pfeiffer syndrome is classified into three different types.  Type I is the mildest form and is most common. Patients with Types II or III have more severe symptoms and may experience problems with brain development.

Pfeiffer Syndrome Treatment.

Treatment usually includes surgical release of any fused skull sutures, facial advancement, eye surgery, staged orthodontics, and possibly palatal closure, nasal reconstruction and speech therapy.

What is the Cause of Pfeiffer Syndrome?

Pfeiffer syndrome results from an early closing (fusion) of up to three of the skull's sutures (coronal, lambdoidal, and sometimes, sagittal). The physical manifestations of Pfeiffer syndrome closely match those of Crouzon syndrome. Pfeiffer syndrome occurs with a frequency of one in 100,000 live births.

A baby’s skull is comprised of separate bones connected by sutures, rather than fused bone. These sutures allow the skull to expand as the brain grows. If any (or all) of these sutures close prematurely, the skull cannot grow/form as it usually would, resulting in what is known as craniosynostosis.    

In the case of a craniosynostosis-related syndrome, current research points to problems in the genes responsible for producing proteins to regulate cell growth rate and/or cell growth limits. Pfeiffer, Apert, Crouzon, Muenke, Pfeiffer, and Saethre-Chotzen syndromes fall into this craniosynostosis-related category.

During early development in the womb, a baby's FGFR-2 protein is supposed to direct immature cells to become bone cells. This protein also tells immature cells when to stop becoming bone cells. However, in craniosynostosis, we believe the FGFR-2 gene may not produce the FGFR-2 protein properly, so that it doesn’t know when to stop telling tissue to become bone. Without clear, “stop bone production” information, the soft sutures of the skull form fused bone before they should—impacting growth patterns and resulting in malformation(s).  In Pfeiffer syndrome, FGFR-1 may also be a factor.

The cause of Pfeiffer syndrome is a gene alteration, which is sporadic. There is no connection between anything the mother did (or didn’t do) to cause her baby to have Pfeiffer syndrome. If neither parent has Pfeiffer syndrome, their chances of having another child with Pfeiffer is minimal. If a parent has Pfeiffer syndrome, the chances that one or all of his/her children will have it are approximately 50 percent. 

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