Cardiofaciocutaneous syndrome

Inheritance

How is cardiofaciocutaneous syndrome inherited?

Cardiofaciocutaneous syndrome is inherited in a dominant pattern. Everyone has two copies of their genes; one comes from your mother and one comes from your father. When a person has a harmful change known as a mutation in one copy of their BRAF, MAP2K1, MAP2K2, or KRAS gene, they have a genetic diagnosis of cardiofaciocutaneous syndrome. Most of the time cardiofaciocutaneous syndrome is not inherited from a parent and happens brand new (de novo) in the child for the first time. This means that the gene mutation happened randomly in either the sperm cell or egg cell. There has been one reported case of a familial CFC occuring due to a MAP2K2 gene mutation that was found in four generations in a family. When a child gets diagnosed with CFC, a doctor may also order gene testing for the parent to make sure it was not inherited. This infromation is useful when the doctor is discussing the chance for other family members or future children may have CFC.

To learn more about genes and inheritance, a person with CFC may want to speak with a genetic counselor and genetics doctor. This team of medical professsionals can help people understand the condition in more detail and decide what testing should be performed. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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Does cardiofaciocutaneous syndrome affect males or females more?

If a person is affected with cardiofaciocutaneous syndrome and has a known gene mutation, what is the chance that his/her children will be affected?

Does cardiofaciocutaneous syndrome affect males or females more?

Cardiofaciocutaneous syndrome affects males and females equally. There is not a higher prevalence seen in males versus females.

If a person is affected with cardiofaciocutaneous syndrome and has a known gene mutation, what is the chance that his/her children will be affected?

While rare, there has been one report so far of cardiofaciocutaneous syndrome occuring within multiple generations of a family. If a person is affected with cardiofaciocutaneous syndrome and has a known gene mutation, there is a 50% or 1 in 2 chance that each of his/her children will be affected. Each person is affected with CFC difference so the specific clinical features and severity of these features cannot be predicted.

It would be important for a person with CFC considering planning a family to speak with a genetic counselor about the chance of having a child with CFC. To find a genetic counselor, ask your main doctor who they recommend. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

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