Marfan's syndrome (patient information): Difference between revisions
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==What are the symptoms of Marfan's syndrome?== | ==What are the symptoms of Marfan's syndrome?== | ||
* People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the length of their arms is much greater than their height. | |||
* Nearsightedness | |||
* Learning disability | |||
==What causes Marfan's syndrome?== | ==What causes Marfan's syndrome?== | ||
Revision as of 18:34, 22 August 2012
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Marfan's syndrome |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]
Overview
Marfan's syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
What are the symptoms of Marfan's syndrome?
- People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the length of their arms is much greater than their height.
- Nearsightedness
- Learning disability
What causes Marfan's syndrome?
Marfan's syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.
The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.
Other areas of the body that are affected include:
- Lung tissue
- The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
- The eyes, causing cataracts and other problems
- The skin
- Tissue covering the spinal cord
In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.