What type of disorder is it?
Marfan syndrome is an autosomal dominant disorder, only being carried on non-sex chromosomes, and being expressed over a recessive gene. It is caused by a mutation in the Fibrillin 1 gene, or FBN1 gene, which is located in chromosome 15.
What are the symptoms?
Symptoms of Marfan Syndrome include vision problems, defects in the aorta, mitral and aortic regurgitation (causes shortness of breath, fatigue, and irregular heartbeat), tall and thin body type, long fingers/toes, arm span larger than body height, long narrow face, crowded teeth, unusual spine curvature, sunken or bulging chest, pain in back, abdomen, legs, or head, nearsightedness, and early cataract formation.
How is it diagnosed?
Marfan syndrome can be diagnosed through several tests, such as a Slit Lamp Exam, and genetic testing. Some evidence of Marfan Syndrome includes issues with the aorta or mitral valve. It can also be diagnosed through looking at family history of the disorder.
How can it be treated?
People with Marfan Syndrome often see a geneticist, cardiologist, ophthalmologist, orthopedist, or cardiothoracic surgeon. They usually get eye glasses for their vision problems, and get their spines surgically stabilized. They can also get orthotics and arch supports to lessen leg fatigue and muscle cramps. People with the disorder can also get their aorta repaired.
What is the life expectancy of someone with the disorder?
The life expectancy of a person with Marfan Syndrome can be quite similar to that of the average population, with proper treatment.
How does the disorder affect their daily lives?
People with Marfan Syndrome can live fairly regular, satisfying lives. However, there are some effects it has on lifestyle. People with the disorder must visit doctors regularly. The disorder can cause fear, anxiety, stress, and depression. There are some physical activities that I must be avoided, such as skiing, football, and weightlifting, and sports with lots of contact with other players are avoided, and so are sports with a very hard ball. There are also added risks in giving birth.
https://www.nhlbi.nih.gov/health/health-topics/topics/mar/livingwith https://www.ncbi.nlm.nih.gov/books/NBK1335/. https://ghr.nlm.nih.gov/condition/marfan-syndrome. http://www.stanfordchildrens.org/en/topic/default?id=autosomal-dominant-marfan-syndrome-90-P02112. Picture: http://rachaelborgmanbiology.blogspot.com/p/marfan-syndrom.html https://www.dnalc.org/view/15956-What-causes-Marfan-syndrome-.html