Marfan Syndrome, a Simple Guide to the Condition, Treatment and Related Conditions
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By Kenneth Kee

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Marfan's Syndrome is an inherited disorder of the connective tissue involving the collagen and glyccosamino-glycans tissue.It is characterized by generally weak connective tissue which includes muscles, ligaments and bones.It is an inherited disease caused by an autosomal dominant gene.Inheritance is passed to 50 per cent of offspring if one parent is affected and 100 per cent of offspring if both parents are affected.Marfan's Syndrome can also be from mutation of the genes.People with Marfan Syndrome are usually exceptionally tall with long fingers and rather flat feet.They may have a spinal curve (scoliosis) and be shortsightedThe two heart problems that are most serious are enlargement of the main body artery and leaky heart valves.When the main body artery stretches (aortic aneurysm) it becomes weaker and blood can leak through the wall (dissection or rupture).Another heart problem that can occur is leaking of the heart valves.1. Long slender extremities with arm span exceeding height and long tapered fingers2. Skeletal deformities include:a. Kyphoscoliosisb. Pectus excavatumc. Long narrow faced. High arched palatee. Pronathism3. Lax ligaments resulting in:a. Hyperflexiblity of jointsb. Easily strained ligaments and jointsc. Flat feet4. Eye problems:a. Dislocation of lens due to lax ligamentsb. Myopia5. Heart problems:a. Dilatation of aortab. Dilatation of pulmonary arteryDiagnosis of Marfan's Syndrome is often based on:1. Medical examination of appearance2. Measurement of metacarpal index from X-raysRatio of length to midpoint width is greater than 8.53. Urinary hydroxyproline is excessive indicating increased collagen turnover4. Genetic analysisTreatment of Marfan's Syndrome includes:1. Genetic counseling2. Prevention of joint strains especially spinal joints3. Beta blockers can reduce aortic blood flow and prevent dilatation of aortaThere may be a shorter life span because of heart and skeletal problemsTABLE OF CONTENTIntroductionChapter 1 Marfan SyndromeChapter 2 More about Marfan SyndromeChapter 3 Treatment of Marfan SyndromeChapter 4 Down SyndromeChapter 5 Klinefelter SyndromeChapter 6 Turner SyndromeChapter 7 Huntington's ChoreaEpilogueMarfan's Syndrome is an inherited diseaseIt causes the connective tissue an elasticity defect.It is usually inherited from autosomal dominant conditionsMarfan Syndrome can also be the result of the gene mutationsIt is characterized by generally weak connective tissue with great flexibilityMarfan Syndrome is usually exceptionally tall with long extremitiesMarfan Syndrome also may have pectus abnormalitiesMarfan Syndrome has a spinal curve called scoliosisMarfan Syndrome also has eye problems such as eye dislocationSome have heart problems such as abnormal valve and aortic dissection.There is no cure in Marfan Syndrome, only prevention with genetic counseling.Other treatment is dental care, physical exercise and preventive medicines.-An original poem by Kenneth Kee