What is Crouzon Syndrome?
Crouzon Syndrome describes a combination of birth defects that occur as the result of a mutation of one of the genes at the time of conception. The chief characteristic of Crouzon Syndrome is the premature fusion of the bones in the skull (also known as craniosynostosis) causing the face, head and jaw to become deformed.
The appearance of children with Crouzon Syndrome is highly variable. Characteristics include:
Skull. Patients with Crouzon Syndrome typically have premature fusion (craniosynostosis) of multiple cranial sutures. The ones most commonly affected are the coronal sutures which extend from ear to ear.
Eyes. The eyes of these patients appear to "bulge out" due to the fact that their skull base and mid-face fail to grow in a normal fashion.
Face. The mid-face has a sunken-in appearance, the upper jaw slopes backward, lower teeth project in front of the upper teeth. The palate is often high and arched.
Upper jaw. The upper jaw is usually small and underdeveloped.
Causes of Crouzon Syndrome
Crouzon Syndrome seems to occur when a particular gene mutates early in pregnancy. Beyond this genetic link, there is no known specific cause of Crouzon Syndrome, or any risk factors for developing this condition.
Risk of Reoccurrence
The chances of having another child with Crouzon Syndrome is almost non-existent if both parents are unaffected. However, Crouzon Syndrome is autosomal dominant. That means, if one parent has this condition, there is a 50% chance that his or her children will also have Crouzon Syndrome.