Pfeiffer Sydrome:

Overview:

Pfeiffer syndrome was not recognized as a unique syndrome until 1964, when R.A. Pfeiffer first described eight individuals with this condition (who were all in the same family, spanning three generations).  Pfeiffer syndrome has been reported to occur in about one in 100,000 births, and may be even more rare than it’s “cousins” Apert and Crouzon syndromes.

Although there have been two different locations for gene mutations linked to Pfeiffer syndrome, the diagnosis of this condition is based on physical findings, and not on a genetic test.  Most children born with Pfeiffer syndrome are the result of a new mutation, which means that neither parent carried the gene for Pfeiffer syndrome, but in the process of bringing together both parent’s genes, this new gene occurred.  There is nothing a mother can do to prevent having a child with Pfeiffer syndrome; that is, Pfeiffer syndrome is not the result of the mother doing anything wrong.  This gene is inherited in an “autosomal dominant” fashion, which means that should an affected child choose to have children later in life, there is a 50:50 chance that the Pfeiffer trait will be passed on with each birth.  For those interested in learning more about the genetics of Pfeiffer syndrome, meeting with a geneticist can provide the opportunity for an interactive discussion.  Today, it is possible for individuals who have Pfeiffer syndrome to elect to not pass on this trait.  However, this currently requires in-vitro fertilization, with selection of those embryos for implantation that do not have the Pfeiffer substitution.

Types of Pfeiffer Syndrome:

Although Pfeiffer syndrome has been linked to two different genes, it has also been broken down into three different subtypes based on physical findings: Type I, Type II and Type III.  The difference between these three different types is not always clear.  Type I is the most common, and is the mildest of the three types.  Children with Type I Pfeiffer syndrome usually have normal intelligence. Type II and Type III represent the more severe types, and are more likely have both serious medical problems and impaired mental development.  Type II can be differentiated from Type III in that the Type II children are born with a “cloverleaf” skull (also called Kleeblattschädel).  Type III children are the most severely affected and do not have a typical cloverleaf skull shape.  Both Types II and III are also associated with a greater risk of death early in life, and some centers have reported mortality rates from 25% to 85% in childhood.  However, lower mortality rates are likely at the most experienced centers, especially those with a special interest in Pfeiffer syndrome (see Publication #32).  It is not possible to determine which subtype of Pfeiffer syndrome any child has by genetic testing alone (as it turns out, sometimes the same gene mutation that has been associated with Pfeiffer syndrome can also result in Crouzon syndrome).


Physical Traits:
Skull | Brain | Eyes & Midface | Ears | Mouth | Hands & Feet | Abdomen

Treatment:
The care of a child born with Pfeiffer syndrome is very complex, and is best provided by a comprehensive craniofacial team at one of the major craniofacial centers.  The Craniofacial Center in Dallas has a special interest in Pfeiffer syndrome, and is one of the busiest centers in the U.S. for treating this syndrome.  We are always willing to offer advice to parents or other physicians.  The following is a brief overview of my recommended treatment protocol in Dallas.  Specifics should be discussed with your team of doctors.
Initial Treatment | Skull Surgery | Sleep Apnea | Midface Surgery

The Big Picture:
The child born with Pfeiffer syndrome, and his or her family, spend too much time in the hospital.  I believe that it is important that every time a child with Pfeiffer syndrome needs to go to sleep in the operating room, all the specialists coordinate their care so that as much gets done as possible with each anesthetic.  It is also critical that the correct operation be done the first time, and that all efforts are made to reduce complications.  I believe that it is very important that these children be given substantial blocks of time away from the hospital so that they can grow and develop.  In order to accomplish this, children should ideally be treated only at experienced craniofacial centers.  See the Choosing a Doctor section to help you put together questions to ask your local doctor, which may help parents to determine where they can get the best care for their child.

Treatment recommendations are constantly changing over time, and will also vary  from center to center.  It is important to discuss these issues with your doctor, and make sure that all your questions get answered.

Jeffrey A. Fearon, MD, FACS, FAAP
Director, The Craniofacial Center, Dallas Texas
972-566-6464
cranio700@gmail.com