MARFAN SYNDROME- a disorder of connective tissue in which causes the hands, fingers and legs to be long and skinny also in frequently optical cardiovascular defects .
causes of birth defect
causes by mutation in the gene that determines the structure of a protein called fibrillin-1 that is an important part of connective tissue .
marfan syndrome affects 1 in 5,000 people all over the world , about 3 out of 4 people with marfan syndrome are inherited with it , two unaffected parents have only 1 and 10,000 chance of having a child with marfan syndrome
- Aortic enlargement
- Some have fewer features
- Affecting heart and blood vessels , bones and joints
- Life threatening complications
- Affect body connective tissue
how is it detected
its detected after and before birth , some test are taking measurements of body or getting a gene test where they take blood test or going to different doctors like a geneticist (a doctor who specializes in disorders of the genes), a cardiologist (heart doctor), an ophthalmologist (eye doctor), and an orthopedist (bone doctor). they get tested to check where there diagnosed with marfan syndrome
treatment or cure
Kids with Marfan syndrome must be followed closely by a team of doctors. Because the kids' bodies grow and change so quickly, most kids will need echocardiograms about once a year, plus frequent eye and bone exams. This helps doctors stay on top of any new problems. the kids or anyone else that has marfan syndrome will be prescribed with special medications called beta blockers and abrs which help the heart not to pump so hard and cause less wear and tear on the blood vessels. some might also have to have surgurey for the heart, eyes, or chest bones depending on how severe the problem has become. the most important thing to remember is just to avoid any stress on the heart