Marfan's syndrome

 

This is a genetic condition caused by mutation in fibrillin-1 gene (15q21.1). It has the following features

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Tall stature with long extremities

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Arachnodactyly

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Ectopia lentis

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Retinal detachments

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Hyperextensibility of joints

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Cardiovascular anomalies such as mitral regurgitation and aortic medial degeneration.

 

Marfan syndrome is a connective tissue disease which affects everywhere you have connective tissue, especially in the skeleton, heart, blood vessels, lungs and eyes. Sufferers tend to have unsually long limbs. This an autosomal dominant condition which has become associated with FBN1 gene on chromosome 15 and the gene encodes for the protein called fibrillin. Fibrillin is responsible for the formation of elastic fibers found in connective tissues. With the fibrillin gene having mutated it then causes problems in connective tissues of the body. Hence the sufferer becomes unsually tall due to the fact that some of the mutated gene encode for protein with similarity to epidermal growth factor (EGF). Some of its complications in the cardiovascular system can be handled by beta blockers but not the ocular and skeletal problems.

 

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