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Pfeiffer syndrome was not recognized as a syndrome until 1964 when R.A. Pfeiffer first described eight individuals with this condition, all in the same family, spanning three generations. Pfeiffer syndrome is not common, and it appears to be even more rare than it's "cousins" Apert and Crouzon syndromes. There have been two different genes linked to Pfeiffer syndrome. 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 when an affected child grows up and chooses to have children, there is a 50:50 chance that the Pfeiffer trait will be passed on for 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. In the very near future, it will be possible for individuals who have Pfeiffer syndrome to elect to not pass on this trait. In order to ensure that this trait is not passed on, it will be necessary to undergo in-vitro fertilization selecting embryos that do not have the Pfeiffer substitution. |
Types of Pfeiffer Syndrome:
Pfeiffer syndrome can be divided into three different types, Type I, Type
II and Type III. The difference between these three types is not always
clear. Type I is the most common, or "typical" form and children usually
have normal intelligence, Type II and Type III are the more severe cases,
and are more likely to have problems with the brain and development. Both
are associated with a greater risk of death early in life (more aggressive
management of the skull and the airways in these children may prevent
these deaths). Type II can be differentiated from Type III in that the
Type II children are born with a "cloverleaf" skull (also called: "Kleeblattschädel"),
and Type III is used to describe the most severely affected individuals
without the cloverleaf skull shape.
Physical Traits:
Skull | Brain
| Eyes & Midface
| Ears | Mouth
| Hands & Feet
Treatment:
The treatment of a child born with Pfeiffer syndrome is complex, and is
probably best provided by comprehensive craniofacial teams at major centers.
The following is a brief overview of my recommended treatment protocol
in Dallas. Specifics should be discussed with your team of doctors.
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.
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.