Our community of experts estimates that nearly half the people who have Marfan syndrome, don't know it.
The Marfan Foundation
Founded in 1981, The Marfan Foundation fights for victory over Marfan syndrome and related disorders. Marfan syndrome is a life-threatening genetic disorder, and an early, accurate diagnosis is essential, not only for people with Marfan syndrome, but also for those with related disorders.
Marfan syndrome affects an estimated 1 in 5,000 people regardless of race, ethnicity, or gender. Our community of experts estimates that nearly half the people who have Marfan syndrome, don't know it. Without proper diagnosis and treatment, they are at high risk for an aortic dissection and sudden death.
Marfan syndrome affects our connective tissue, which helps to hold the body's cells and tissues together. It also regulates how our bodies grow. Some features of Marfan syndrome are easier to see than others. These include long arms, legs, and fingers; tall and thin body type; a curved spine; sunken or protruding chest; flexible joints; flat feet; crowded teeth; and unexplained stretch marks on the skin. Harder-to-detect signs include heart problems, especially related to the aorta, the large blood vessel that carries blood away from the heart. Aortic dilation occurs in about 9 of 10 persons with Marfan syndrome and is of particular concern because it can lead to aortic dissection and sudden death. Advances in medical and surgical management have significantly increased life expectancy for affected persons, but life-saving therapies are helpful only when a person has a correct diagnosis and knowledgeable medical care.
Ongoing research continues to expand our understanding of how genetic mutations cause the features found in Marfan syndrome. Research has identified promising new medical treatments, and has also clarified and identified related disorders that share overlapping genetic and/or medical problems with Marfan syndrome. As a result, knowing whether a person has Marfan syndrome or a related disorder is essential to providing proper, potentially life-saving medical management. Related disorders include Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Familial Thoracic Aortic Aneurysm and Dissection, MASS Phenotype, Ectopia Lentis Syndrome, Beals Syndrome, Bicuspid Aortic Valve, Stickler Syndrome, and Shprintzen-Goldberg Syndrome.
Through the following programs in research, patient support, and education, The Marfan Foundation creates a brighter future for everyone affected by Marfan syndrome and related disorders:
- The Marfan Foundation's Research Program was launched in 1989 with a $3,000 research grant award. In 2016, we awarded grants totaling $700,000 to support promising research by scientists and physicians at different stages of their careers. The research we’ve supported has helped reduce life-threatening problems related to Marfan syndrome and related disorders, identified treatments that have improved quality of life, and have helped people to live longer, fuller lives. We continue to support this life-changing research because there is still much to do and because there are still many who are struggling on their medical journey.
- Marfan Foundation-funded research has found and continues to find new therapeutic targets and treatments that reduce the most life-threatening aspects of Marfan syndrome.
- Our education and awareness programs focus attention on the need for accurate, early diagnosis and proper treatment of Marfan syndrome and related disorders. Educational resources are designed for diverse constituencies, ranging from children, teens, families, and individuals; to school nurses and coaches, emergency medicine professionals, genetic counselors, and the many medical specialties that play a role in Marfan syndrome diagnosis and treatment.
- Support Service programs work to provide a supportive community for everyone affected by Marfan syndrome and related disorders. Individuals, family members, medical professionals and other healthcare providers can contact the Foundation's Help & Resource Center. Managed by a registered nurse and a licensed clinical social worker, the Help & Resource Center gives reassuring comfort and life-saving support for our constituents every day. Through personalized one-on-one service, the Help & Resource Center disseminates crucial information such as Marfan clinic directories, guidelines for families and their schools, and important details on healthcare coverage and disability. The Help & Resource Center also serves as a valuable resource for medical professionals, some of whom may have little clinical experience with Marfan syndrome or related disorders. The Help & Resource Center fields questions from physicians, genetic counselors, nurses, social workers and other specialists seeking information on diagnosis and treatment as well as issues related to insurance, social security, legal, education and vocational problems. Extensive information is also available for cardiologists, orthopedists, ophthalmologists and other professionals who require comprehensive detail in their specialty areas.