Marfan Syndrome

What do a former U.S. president and a Swedish heavy metal singer have in common?
Possibly Marfan syndrome.
Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. Marfan syndrome is also an example of a dominant negative mutation. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease.
Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is aortic aneurysm.
Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptoms include; abnormal joint flexibility, high palates, flat feet, stooped shoulders, and dislocation of the optic lens.
Nearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or displacement of the lens in one or both eyes.
Quoted from Wikipedia

Marfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Their arm span usually exceeds their height. (For instance a person of 6'6" tall would normally have a 6'6" arm span. A person with Marfan Syndrome at this height would likely have a 7' arm span.) Their arms and legs are strikingly long in comparison with the torso.



















Abraham Lincoln was 6'4" tall and weighed around 180 pounds.



















Per Ohlin was 6'4" or 6'5" tall. His weight was likely comparable to that of President Lincoln.

















Persons with Marfan Syndrome sometimes have fingers with a long, thin, spidery appearance known as arachnodactyly.









































































These photos show the markedly angular facial features in both subjects. Both men have a prominent, angular nose with a strikingly broad bridge.

Of course not all tall, slender individuals have Marfan Syndrome. Basketball star Michael Jordan is 6'6" tall and weighs 215 pounds. He exhibits none of the characteristics of Marfan's.

For more information on my models:
Abraham Lincoln (February 12, 1809-April 15, 1865)
Per Ohlin (January 16, 1969-April 8, 1991)

A personal note:
Although not a trait associated with Marfan Syndrome, I find it interesting that both Lincoln and Ohlin suffered from mood disorders, either major depression or possibly Bipolar Type II as both had periods when they described moments of elation or high energy uncharacteristic to their normally melancholy personalities. Lincoln once described himself as being the most miserable man alive. Ohlin committed suicide at the age of 21.
Both of these individuals possessed remarkable qualities far beyond being interesting subjects for scientific observation. They were both highly intelligent. Lincoln was a noble humanitarian and Ohlin a gifted poet and musician. I mention these aspects because I believe in the importance of focusing on a person's soul before their physiology.