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Glossary

Glossary of Terms

Here’s a glossary of terms related to Marfan’s Syndrome:

    1. Marfan’s Syndrome: A genetic disorder that affects the body’s connective tissue, causing various skeletal, cardiovascular, and ocular abnormalities.
    2. Connective Tissue: Tissue that supports, binds, or separates other tissues or organs, providing structural support and elasticity.
    3. Fibrillin: A protein that is a major component of microfibrils in connective tissue.
    4. Microfibril: A small fibril, composed mainly of fibrillin, found in the extracellular matrix of connective tissue.
    5. Aorta: The main artery in the body, which carries oxygenated blood from the heart to the rest of the body.
    6. Aortic Aneurysm: A bulge or ballooning in the wall of the aorta, which can be a complication of Marfan’s Syndrome.
    7. Aortic Dissection: A serious condition in which there is a tear in the inner layer of the aorta, which can lead to aortic rupture and potentially fatal bleeding.
    8. Ectopia Lentis: Displacement or malposition of the lens of the eye, a common ocular feature of Marfan’s Syndrome.
    9. Arachnodactyly: Abnormally long and slender fingers and toes, a characteristic feature of Marfan’s Syndrome.
    10. Genu Valgum: Also known as “knock-knee,” a condition in which the knees angle inward and touch when the legs are straightened.
    11. Pectus Excavatum: A condition in which the breastbone sinks into the chest, giving the appearance of a caved-in chest.
    12. Scoliosis: A sideways curvature of the spine, which can be a skeletal feature of Marfan’s Syndrome.
    13. Mitral Valve Prolapse: A condition in which the valve between the left atrium and left ventricle of the heart does not close properly.
    14. Myopia: Nearsightedness, a common vision problem associated with Marfan’s Syndrome.
    15. Dural Ectasia: An abnormal widening or ballooning of the dural sac surrounding the spinal cord, which can cause back pain.
    16. Fibrillin-1: The gene that, when mutated, causes Marfan’s Syndrome.
    17. Zonules: Suspensory ligaments that support the lens of the eye.
    18. Osteoporosis: A condition characterized by low bone density, which can increase the risk of fractures.
    19. Skeletal Abnormalities: Structural abnormalities of the skeleton, such as long limbs, a tall stature, and a narrow face, which are common in Marfan’s Syndrome.
    20. Ocular Abnormalities: Abnormalities of the eye, such as lens dislocation, nearsightedness, and glaucoma, which are common in Marfan’s Syndrome.
    21. Cardiovascular Abnormalities: Abnormalities of the heart and blood vessels, such as aortic aneurysm and aortic dissection, which are serious complications of Marfan’s Syndrome.
    22. Echocardiogram: An ultrasound test that uses sound waves to produce images of the heart and blood vessels.
    23. Genetic Mutation: A change in the DNA sequence of a gene, which can lead to a genetic disorder such as Marfan’s Syndrome.
    24. Fibrillinopathy: A group of connective tissue disorders, including Marfan’s Syndrome, caused by mutations in the fibrillin gene.
    25. Life Expectancy: The average number of years a person can expect to live, which may be shortened in individuals with severe forms of Marfan’s Syndrome.