Marfan Syndrome

By Chanelle Chua and Juliana Pellino

Marfan syndrome is a genetic disorder that affects the development of connective tissues in the human body. Marfan Syndrome is the result of a variety of mutations to the gene which codes for the fibrillin protein, which is responsible for the connective tissues that are subsequently affected by mutations. The gene which contains the instructions for the fibrillin protein is located at 15q21.1. The disease is inherited in an autosomal dominant pattern in seventy-five percent of cases. The remaining twenty-five percent of people who suffer from Marfan syndrome get the disease due to non-inherited genetic mutations. Because of their defective connective tissues, people who suffer from Marfan syndrome experience issues with their cardiovascular tissues, vision, blood vessels, and lungs. Cardiac problems such as murmurs, defective heart valves, and stretched-out aortas are typical of those with Marfan syndrome. A common cause of death in people with Marfan syndrome is a ruptured aorta, due to pressure from blood flow. Although the severity of the disease varies between each afflicted person, typical characteristics of a person with Marfan syndrome are long and narrow faces, significantly lengthened extremities, crowded teeth, and sunken or barrel chests. The onset of Marfan syndrome occurs as soon as a child begins to grow. Because of skeletal abnormalities, growth can be restricted severely. This limitation on growth in people with Marfan syndrome is particularly pronounced in patientsí adolescent years, during which they grow far more rapidly than during other stages of their lives. Despite restrictions placed on people afflicted with Marfan syndrome as a result of their disease, with early diagnosis and care, people with Marfan syndrome can have life spans similar to those of normal and healthy people.

In this photo, a normal male chest is compared with that of a man who has

a sunken chest, which is a common characteristic of people who have Marfan Syndrome.


This photo displays the differences in the hands of a normal person and a person who has Marfan Syndrome.