Apert Sydrome:

Overview:
In 1906, a French neurologist first described the features of this syndrome that now bears his name. Apert syndrome results from a mutation (or change) in a single gene located on chromosome 10q. There are actually two different mutations on this chromosome that can produce Apert syndrome (they are: Ser252Trp and Pro253Arg), and researchers are studying to see if one mutation causes a slightly different "type" of Apert from the other. Currently, no one knows what causes this mutation to occur. Typically, both the mother and father of a child born with Apert syndrome have normal genes, and the mother does "everything right" during her pregnancy. The process of bringing genes together from a mother and father is quite complicated. Once in awhile, a gene can be changed in the process. If this occurs in the "right" gene, Apert syndrome results. The chances of two parents, neither of whom have Apert syndrome themselves, of having a child with Apert syndrome has been estimated to be as high as 1:120,000 (Could you have Apert syndrome and not know it? The answer is: no.). However, the most recent data suggests that this condition is more common, and occurs in approximately 1:65,000 births. Apert syndrome can be inherited, and is transmitted in what geneticists call an "autosomal dominant pattern." This means that when a child grows up with Apert syndrome and chooses to have children, there is a 50:50 chance that the Apert trait will be passed on for each birth. In the very near future, it will be possible for individuals who have Apert 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 Apert substitution.

Physical Traits:
Apert syndrome affects multiple places around the body. Some individuals will have some of the following traits and others will not. This list is not complete, but does include the more common findings.
Skin | Skull | Brain | Eyes & Midface | Ears | Mouth | Heart | Stomach & Intestines | Hands & Feet | Other Joints

Treatment:
The treatment of a child born with Apert 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 protocols. Specifics should be discussed with your team of doctors.
Skull Surgery | Sleep Apnea | Midface Surgery | Hands and Feet

The Big Picture:
The child born with Apert syndrome, and his or her family, spend too much time in the hospital. I believe that children with Apert syndrome should not be put to sleep for a single small operation to be done by only one doctor, multiple times a year. It is important that every time a child with Apert 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 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.