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).
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