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: 6/8/2016
Is there a way to prevent having a child with Crouzon syndrome?
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:
thoroughly evaluating the family history
addressing questions and concerns
assessing recurrence risks
facilitating genetic testing if desired
discussing reproductive options
Last updated: 6/8/2016
How can I find a genetics professional in my area?