Initially called craniofacial dysotosis, Crouzon syndrome was named for French physician, Octave Crouzon (1874-1938), the first to describe it in 1912.

Crouzon Syndrome Characteristics.

Individuals with this syndrome are typically characterized by the following differences:
-wide head across the front
-short head from front-to-back
-flat-looking face due to underdeveloped cheekbones, eye sockets and lower jaw
-shallowly-placed, bulging eyes that may be crossed or wide-set
-small nose with an upwardly-tilted beak shape
-low-set ears, sometimes accompanied by hearing loss and narrow ear canals

Additional characteristics that may be present include:
-cleft palate 
-acanthosis nigricans or dark, rough folds of skin in the armpits, groin, etc. (in 5-10 percent of cases)

Crouzon Syndrome Treatment.

Treatment may include surgical release of any fused skull sutures, mid-face advancement, eye surgery, staged orthodontics, and possibly palatal closure and speech therapy.

What is the Cause of Crouzon Syndrome?

Present at birth, Crouzon syndrome results from an early closing (fusion) of several of the skull's sutures-always including the side (coronal) sutures. Closely related to Apert syndrome, Crouzon patients do not share all the physical anomalies associated with Apert syndrome. Crouzon syndrome occurs with a frequency of one in 60,000 live births. 

A baby’s skull is comprised of separate bones connected by sutures, rather than fused bone. These sutures allow the skull to expand as the brain grows. If any (or all) of these sutures close prematurely, the skull cannot grow/form as it usually would, resulting in what is known as craniosynostosis.  
In the case of a craniosynostosis-related syndrome, current research points to problems in the genes responsible for producing proteins to regulate cell growth rate and/or cell growth limits. Crouzon, Apert, Muenke, Pfeiffer, and Saethre-Chotzen syndromes fall into this craniosynostosis-related category.

During early development in the womb, a baby's FGFR-2 protein is supposed to direct immature cells to become bone cells. This protein also tells immature cells when to stop becoming bone cells. However, in craniosynostosis, we believe the FGFR-2 gene may not produce the FGFR-2 protein properly, so that it doesn’t know when to stop telling tissue to become bone. Without clear, “stop bone production” information, the soft sutures of the skull form fused bone before they should—impacting growth patterns and resulting in malformation(s).

The cause of Crouzon syndrome is a gene alteration, which is sporadic. There is no connection between anything the mother did (or didn’t do) to cause her baby to have Crouzon syndrome. If both parents do not have Crouzon syndrome, their chances of having another child with Crouzon is minimal. If a parent has Crouzon syndrome, the chances that one or all of his/her children will have it are approximately 50 percent. 

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