Also known as: Craniofacial Dysostosis
What is Crouzon syndrome?
Crouzon syndrome was first described in 1912 by Dr. Crouzon This condition is also called Craniofacial Dysostosis (condition involving the bone of the face).
The primary clinical signs of Crouzon syndrome are:
Craniosynostosis (premature closure of the sutures of the skull)
Ocular proptosis (protruding eyes)
Protruding jaw and forehead
What causes Crouzon syndrome?
Most cases of this condition are caused by a change (“mutation”) in a gene called the Fibroblast Growth Factor Receptor Gene 2 or more simply FGFR2. There are some individuals with Crouzon syndrome that also have a skin condition called acanthosis nigricans and have mutations in the FGFR3 gene. Crouzon syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Crouzon syndrome, his/her offspring would have a 50% for also having Crouzon syndrome.
Most individuals with Crouzon syndrome are the first cases in the family. This means that the parents of the affected child do not have Crouzon syndrome. If a child’s parents do not have Crouzon syndrome, the risk to their other pregnancies is low. However, an increased risk for Crouzon syndrome as been found in pregnancies of older fathers.
What is the prognosis?
With close medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are often required for these children but most will ultimately attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.