Marfan syndrome

How is Marfan syndrome inherited?

Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. 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.

At least 25 percent of Marfan syndrome cases result from a new (de novo) mutation in the FBN1 gene. These cases occur in people with no family history of the disorder.

Last updated on 05-01-20

Name: The Marfan Foundation 22 Manhasset Avenue
Port Washington, NY, 11050 , United States
Phone: +1-516-883-8712 Toll Free: 1-800-8-MARFAN (800-862-7326) Fax : +1-516-883-8040 Email: Url:
Name: Genetic Aortic Disorders Association Canada GADA Canada Centre Plaza Postal Outlet 128 Queen Street South
P.O. Box 42257 Mississauga Ontario L5M 4Z0
Phone: 905-826-3223 Toll Free: 866-722-1722 Fax : 905-826-2125 Email: Url:
Name: Scoliosis Research Society 555 East Wells Street, Suite 1100
Milwaukee, WI, 53202-3823 , United States
Phone: 414-289-9107 Fax : 414-276-3349 Email: Url:
Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: Url:
Name: Hypermobility Syndromes Association HMSA 49 Greek Street
London, WD1 4EG, United Kingdom
Phone: 033 3011 6388 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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