Marfan Syndrome

AP Biology Module 6 Lesson 2 Assignment 1

What is Marfan Syndrome?

Marfan Syndrome is a genetic connective tissue disorder.

The signs include long arms, legs, and fingers, tall and thin body types, curved spines, sinking or protruding chest, flexible joints, flat feet, aortic enlargement, eye problems, and sudden lung collapses.

When do complications set in?

MFS can be detected as early as birth or as late as adulthood. Marfan Syndrome is unique because it expresses variable expression, the effects are different for different people and the features very for time and level. This disease can be detected before birth. In order to diagnose before birth, the parental mutation must be identified first. Parental testing can be done like other genetic testing for deletion or mutation on the gene that contains MFS. Once this has been confirmed CVS (chorionic villus sampling) or aminocentesis can be preformed during periods of gestation.

Genetic Information

Treatment

Treatment depends on how severe symptoms are in an individual. There is no cure, but ways to prevent complications and to slow present complications down. Certain medications, such as beta blockers, which slow the heart rate down, can be used to slow down the dilation of the aorta or surgery can be done to replace the dilated section. Surgery can be done to correct bone complications such as scoliosis or a caving chest cavity. Glasses or surgery can be used to correct some of the eye problems associated with the disease. Pain medications can treat nervous conditions such as dural ectasia.

Famous People with Marfan Syndrome!