WHAT IS MARFAN SYNDROME?
Marfan syndrome is a chronic genetic illness with a significant impact on life and on family. It is transmitted to 50% of children of patients with Marfan syndrome and is caused by a mutation in the fibrillin-1 gene that controls connective tissue in the body. It is associated with physical problems involving a number of tissues including the aorta, the eyes and the skeleton.
Who has Marfan syndrome?
Around 1 in every 5,000 people have Marfan syndrome and every person with Marfan syndrome has a family where 50% of siblings have the disease. For Australia’s current population of 25 million people, there are approximately 5,000 people with Marfan syndrome. Males and females are equally affected.
Patients with Marfan syndrome suffer from physical and psychosocial issues throughout their life. At present there is no curative treatment. Medical and surgical approaches have improved survival rate but quality of life, economic stability, educational opportunities, anxiety, depression and lack of social support all remain as overwhelming challenges for a person with Marfan syndrome.
There is no affect on intelligence or intellectual function.
What are the signs of Marfan syndrome?
Since connective tissue is found throughout the body, Marfan syndrome can affect many parts of the body. Signs of the disorder are most often found in the: