Human Genetic Disorder: Marfans Syndrome

A human genetic disorder, marfans syndrome is a debilitating disease.

Marfan's syndrome is a genetic disorder of the connective tissues. It is the result of a mutated gene. Since all germane relatives have genes in common, more than one family member may be affected. In some rare cases a spontaneous mutation has occurred.

In the 19th century a French physician by the name of Antoine Marfan had a five-year-old female patient, with long thin limbs, poor muscle development and an abnormally curved spine. Dr. Marfan's name became synonymous with patients affected by this same syndrome.

Connective tissue acts as the support system of individual organs as well as the entire human body. Marfan's syndrome may affect the skeletal system, ocular system, cardiovascular and pulmonary systems in varying degrees.

The most common is long bones/limbs, curvature of the spine and an overgrowth of the ribs causing an indention or protrusion of the breastbone. A high palette and over crowding of the teeth are usual occurrences for individuals with Marfan's syndrome.

The most common effect on the ocular system is myopia or nearsightedness. Nearly one half of the patients with Marfan's will have dislocated lens. This dislocation may be mild or severe. Retinal detachment (tears in the inner lining of the eye) also may occur.

The most serious characteristic of Marfan's is the affect it has on the heart. The cardiovascular system is generally affected some how in nearly all patients carrying the Marfan gene. The valves are usually of irregular structure and size, which can lead to leaking or regurgitation of the blood flow. Many patients' hearts will compensate and no other symptoms develop. However, most exhibit one or more of the following symptoms; shortness of breathe, extreme tiredness, irregular heartbeat and palpitations.

If the largest artery (the aorta) is affected, the diameter will likely widen or dilate. When the dilation becomes extreme, Physicians refer to it as an aneurysm. Rupture or dissection of the aneurysm becomes a great concern. Many Cardiologists prescribe a beta-blocker, to help lower the heart rate. This has been proven to help prevent or slow down the wear and tear on an individual's heart.

The connective tissue provides stability and elasticity to the lungs. An individual with Marfan's syndrome may have lung changes similar to emphysema and in rare cases a spontaneous collapse of the lung has occurred.

The most minor affect of Marfan's syndrome is stretch marks (striae) on the shoulders, hips and lower back. . These stretch marks are likely to appear at an early age. Although they pose no medical risk, they can be an aesthetic burden.

Some believe President, Abraham Lincoln had Marfan's syndrome, because there is no one "test" to diagnose the condition we will never know for sure. Diagnosis is made through a series of examinations and usually a consultation with a geneticist. It affects no one ethnic group more than any other making it an equal opportunity affliction.

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