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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Marfan syndrome


Other Names for this Disease
  • Contractural arachnodactyly
  • Marfan syndrome type 1
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Your Question

I have been told that I probably have Marfan's Syndrome and at this point it appears to be a mild form of the condition (aortic aneurysm and mitral valve prolapse). I am a 60 year old mother of 4 children. My question is that because this is a genetic condition, what are the chances that my children and grandchildren have inherited it and will they also inherit the mild form?


Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Because Marfan syndrome is a genetic condition, what are the chances that my children and grandchildren have inherited it?

Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.

Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.

About 75% of individuals diagnosed with Marfan syndrome have an affected parent. About 25% of people with Marfan syndrome have the disorder as the result of a de novo (new) gene mutation. Individuals with de novo gene mutations are very likely to be the first person in their family to have Marfan syndrome.[1]
Last updated: 10/15/2013

Since my symptoms of Marfan syndrome are mild, if my family members inherit the gene, will their symptoms also be mild?

Marfan syndrome affects people in different ways. Some people have only mild symptoms, while others are more severely affected, even if they are in the same family. In most cases, the disorder progresses as the person ages.[2]
Last updated: 10/15/2013

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