Essay On Marfan Syndrome
Marfan syndrome is a genetically inherited disorder that affects the human connective tissue. Connective tissue is the material present between the cells of the body, thus giving strength and flexibility to the body.
Since connective tissue is found all over the body, multiple organ systems are affected.
Marfan syndrome is an autosomal dominant genetic disorder, where abnormality in the gene causes a myriad of clinical features mainly affecting the skeletal system- bones and muscle, cardiovascular system-heart and blood vessels and the ocular system.
Marfan syndrome is also known as arachnodactyly which means spider like fingers in Greek as the hallmark feature of this condition is disproportionately long hands and fingers. Along with long and
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The most important factor is early diagnosis, so that patient can benefit from lifestyle modifications thus increasing the life expectancy. Good medical care and social support can help both adults and children with Marfan syndrome. Average life expectancy of people with Marfan syndrome is about 70 years.[3] PRESENTATION
There are more than 25 -30 different signs and symptoms in Marfan syndrome which can be of variable intensity and differ from patient to patient. Some people may not show any signs and symptoms. This condition worsens with age. Marfan syndrome becomes more obvious as changes occur in connective tissue.
The major systems affected are
• Skeletal system-The facial appearance of affected patients may be distinctive, with elongation and asymmetry. Sometimes there may be a high arched palate resulting in speech disorders.[4]
Tall stature along with long thin digits and alteration in body proportions are seen. Wrists maybe thin and weak. The arm span measured from the extended fingers often exceeds the height of the patient. Along with that patient may show flat feet, hammer toes or stooped
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