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Craniofacial Syndrome: Pfeiffer

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.

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, protruding 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.

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

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

What Happened?

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, Carpenter, Crouzon, Muenke, 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.

What to Do?

When a child is born with a craniofacial issue, we evaluate many factors in order to develop the most effective treatment plan. We study how the child’s underlying structures and functions are affected, including: the brain and facial skeleton, the central nervous system, the senses and parts of the spine (cervical vertebrae). In patients whose facial skeleton is affected, we carefully identify resulting changes in the soft tissues of the face, mouth and top of throat (pharynx). It’s imperative to quickly determine how their condition is affecting normal, critical functions such as breathing, swallowing and speaking, so that we can promptly begin appropriate treatment.

In most syndromes, the abnormal growth patterns continue throughout the growing years because they were programmed into the body while the embryo was forming. In order to correct and repair the child’s areas of concern, we evaluate the anatomical and functional problems and carry the treatment plan out in stages. At each new level of maturity, we’ll take advantage of the natural windows of opportunity for reconstruction and other surgical procedures.

We must time each intervention carefully, because when we change or correct part of a child’s body, that surgery indirectly affects the body’s growth and development “messages.” Our broad range of experience allows us to not only identify the most appropriate timing for repairs but to also respond to unpredictable changes as we go.

Essential factors will lead to the best outcome: For our part, accurate diagnosis and a customized, expertly carried-out treatment plan are primary concerns. This applies to reconstructive surgery, as well as aesthetic surgery, to create the very best facial and corporal appearance. For your part, as the parent/family, the outcome depends on your commitment to play the key support role throughout the child’s various surgeries, physical changes, social adaptations, academic development and everyday life skills.

In all syndrome conditions, our treatment goals fall into similar categories – to give the child’s brain and all sensory organs room to grow and develop, and to make it as easy as possible for the child to breathe, eat, sleep, communicate and become as independent as possible.