Also known as: Craniofacial dysostosis
What is Crouzon syndrome?
Crouzon syndrome is a rare disorder that is present at birth. It is characterized by the seams between a baby’s soft skull bones closing early, which causes the face and eye sockets to develop incorrectly. Crouzon syndrome was first described in 1912 by Dr. Louis Edouard Octave Crouzon. This condition is also called craniofacial dysostosis (condition involving the bone of the face).
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 percent chance of 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 are the symptoms of Crouzon syndrome?
The primary clinical signs of Crouzon syndrome are:
- Craniosynostosis (premature closure of the sutures of the skull)
- Vision problems as well as ocular proptosis (protruding eyes) caused by shallow orbits (bones surrounding the eyes)
- Protruding jaw and forehead
- Underdeveloped midface
- Hearing loss
- Normal intelligence
- Difficulty breathing and dental issues are also common
What are Crouzon syndrome care options?
Treating Crouzon syndrome often takes a variety of different treatments and therapies. Surgery to correct the different abnormalities is common, and assistance with breathing can be needed. Vision correction is performed when necessary and children will also often require therapy to correct speech or hearing problems.
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 be healthy and happy adults.
This page was last updated on: December 18, 2020 04:59 PM
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When a baby has craniosynostosis, however, one or more of the bones of the skull are joined together by bone prematurely, which lead to problems depending on which, and how many sutures may have closed early.
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Genetic screening refers to a wide variety of tests performed on blood and tissue to screen for genetic disorders.