Crouzon syndrome

Living with

How many people with craniosynostosis (early fusion of the skull bones) have Crouzon syndrome?

About 4.5% of people with craniosynostosis have Crouzon syndrome. Craniosynostosis or premature fusing of the skull bones causes the skull to grow abnormally and affect the head and the face. Many of the facial features seen in Crouzon syndrome are also the result of this early fusion and include abnormal growth of the bones that cause wide-set and bulging eyes, vision problems that may include strabismus (eyes that don't point in the same direction) and a jaw that is underdeveloped.

References
  • Cohen, S. R., Dauser, R. C., Gorski, J. L. Insidious onset of familial craniosynostosis. Cleft-Palate Craniofac. J. 30: 401-405, 1993. PubMed: 8399270
Show More Content Like This

More Living with Content

Does Crouzon syndrome affect males or females more?

What percentage of people with Crouzon syndrome also have acanthosis nigricans?

Is there anything that increases the risk to have a child with Crouzon syndrome?

Do people with Crouzon syndrome have intellectual disability?

Is everyone with Crouzon syndrome affected the same?

What is the prognosis for people with Crouzon syndrome?

Is there a cure for Crouzon syndrome?

Does Crouzon syndrome affect males or females more?

Crouzon syndrome appears to affect males and female equally.

What percentage of people with Crouzon syndrome also have acanthosis nigricans?

About 5-10% of people with Crouzon syndrome also have acanthosis nigricans. Acanthosis nigricans is a skin condition where the folds and creases in the skin are dark colored (brown to black), thickened, and velvety.

Is there anything that increases the risk to have a child with Crouzon syndrome?

When the father is of older age (advanced paternal age), there is a higher risk to have a child with a de novo (brand new) mutation in the FGFR2 gene associated with Crouzon syndrome. This mutation is not inherited from a parent, but happens brands new in the sperm that creates the baby.

References
  • Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000;66:768-77. PMID: 10712195
Do people with Crouzon syndrome have intellectual disability?

Most people with Crouzon syndrome have normal intelligence. About 3% of people with Crouzon syndrome have intellectual disability.

Is everyone with Crouzon syndrome affected the same?

People with Crouzon syndrome are affected differently and it is difficult to predict the severity of medical concerns at birth. Some people are more mildly affected and some people are more severely affected. Not all people affected with Crouzon syndrome in the same family are affected similarly.

What is the prognosis for people with Crouzon syndrome?

The prognosis for individuals with Crouzon syndrome is generally good but also variable; it all depends on the medical concerns and the severity of medical concerns in the affected person. Life-expectancy is typically normal.

Is there a cure for Crouzon syndrome?

There is no cure for Crouzon syndrome. Treatment is limited to management and surveillance of medical concerns, and surgical intervention. For example, if someone has hydrocephalus, pressure inside the skull (intracranial pressure) may increase and a tube (shunt) may need to be surgically placed to drain the extra fluid from the brain. Infants who have premature fusion of many skull bones (craniosynostosis) and a severe skull deformity may need surgery early in the first year of life. There are published guidelines for management and surveillance for Crouzon syndrome on the website http://genereviews.org/.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me