Crouzon Sydrome:

Overview:

First described by a French neurosurgeon, O. Crouzon, in 1912, Crouzon syndrome involves a fusion or closure of the coronal suture in the skull. There are two types of Crouzon syndrome: the classic form of Crouzon, and Crouzon with acanthosis nigricans (a dark discoloration with "rough" skin in the armpits and groin). The classic Crouzon syndrome occurs as the result of a mutation, or change, in a gene called FGFR2 located on the 10q chromosome, and Crouzon with acanthosis nigricans results from a mutation in a gene FGFR3 on chromosome 4p. Currently, no one knows what causes this mutation to occur. Typically, both the mother and father of a child born with Crouzon 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 it the "right" gene, Crouzon syndrome results. The chances of two parents, neither of whom have Crouzon syndrome themselves, of having a child with Crouzon syndrome has been estimated to be somewhere between 1:50,000 and 1: 100,000 births. Crouzon syndrome can be inherited, and is transmitted in what geneticists call an "autosomal dominant pattern." This means that if a child affected with Crouzon syndrome decides to have children when he or she is grown, there is a 50% chance of having a baby who also has Crouzon syndrome. For those interested in learning more about the genetics of Crouzon 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 Crouzon syndrome, to elect to not pass on this trait. In order to do this it will be necessary to undergo in-vitro fertilization and select embryos that do not have the Crouzon substitution for implantation.

Physical Traits:
Individuals with Crouzon syndrome tend to share many physical traits in common, although the severity may vary from person to person. As a result of the fusion, or closure of the skull bones (see below), the forehead cannot grow forward, so it grows taller. Also the bones of the midface (between the eyes and the upper teeth) are smaller and this makes the child's eyes look bigger.
Skull | Brain | Eyes & Midface | Ears | Mouth

Treatment:
The treatment of a child born with Crouzon syndrome is complex, and is probably best provided by comprehensive craniofacial teams at major centers. The following is a brief overview of our recommended treatment protocols. Specifics should be discussed with your team of doctors.
Skull Surgery | Sleep Apnea | Midface Surgery

The Big Picture:
The child born with Crouzon syndrome, and his or her family, spends too much time in the hospital. 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.