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Crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis). This prevents normal growth of the skull, which can affect the shape of the head and face. Signs and symptoms of Crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw. Other features may include dental problems, hearing loss, and/or cleft lip and palate. The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present. Crouzon syndrome is caused by changes (mutations) in the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development.
Source: GARD Last updated on 05-01-20
Crouzon syndrome is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.
There is nothing that either parent can do, before or during a pregnancy, to cause a child to be born with Crouzon syndrome.
In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.
When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Last updated on 05-01-20
Almost all people with a mutation known to cause Crouzon syndrome have features of the condition. However, in at least one family, it appeared that the responsible mutation did not affect every family member who had it. For this reason, Crouzon syndrome has been described by some as having variable penetrance and expressivity, even within families. When a condition has variable (or reduced) penetrance, it means that not every person with a mutation in the responsible gene will have apparent signs and symptoms of the condition. When a condition has variable expressivity, it means that not all people who do have features will be affected the same way - there is a range of possible features and severity. While extremely uncommon, it may be possible for family members with a mutation to "appear" unaffected, with very mild or unnoticeable features. Therefore, whether an unaffected sibling is at risk to have an affected child may depend on whether the sibling has a mutation in the responsible gene.
If an apparently unaffected sibling is confirmed to not have the mutation that is present in an affected family member, he/she is not considered at risk to have an affected child. In other words, a person cannot pass on a mutation that he/she does not have. Based on most reports in the literature, people without features of Crouzon syndrome typically do not carry a mutation in the responsible gene.
If an apparently unaffected sibling does have the mutation that is present in an affected family member, he/she has a 50% (1 in 2) chance to pass the mutation on to each child. In this case, even though the sibling does not have apparent features of the condition, it would not be possible to predict whether a child that inherits the mutation will be affected, or how severely he/she may be affected.
If the specific mutation causing Crouzon syndrome has been identified in an affected family member, other family members can have genetic testing to determine whether they carry the mutation and are at risk for passing the mutation on to their children.
People with personal questions about genetic risks and genetic testing are encouraged to speak with a genetic counselor or other genetics professional. A genetics professional can help by:
Last updated on 05-01-20
With advanced planning and appropriate testing, it may be possible to prevent having a child with Crouzon syndrome.
During a pregnancy:
If the genetic change (mutation) in an affected family member has been identified, prenatal genetic testing may be possible during pregnancy. Genetic testing may be performed on a sample obtained by chorionic villus sampling (at about 10 to 12 weeks gestation), or by amniocentesis (usually performed at about 15 to 18 weeks gestation). If the condition is confirmed in the fetus by either method, planning for an affected child and/or pregnancy management options, may be discussed with a health care provider.
Before a pregnancy:
As an alternative to prenatal diagnosis during the pregnancy, preimplantation genetic diagnosis (PGD) before a pregnancy may be an option if the mutations in the family are known. PGD is done after in vitro fertilization (IVF) to diagnose a genetic condition in an embryo before it is introduced into the uterus. When having PGD, only embryos known to be unaffected are introduced into the uterus for a possible pregnancy.
People interested in genetic testing, prenatal diagnosis, and/or PGD should speak with a genetic counselor or other genetics professional regarding their testing options. A genetics professional can help by:
Last updated on 05-01-20
The Children's Craniofacial Association has published the booklet "A Guide to Understanding Crouzon Syndrome" for parents. Click on the link to read the booklet.
Last updated on 04-27-20
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