Glossary
Glossary of Terms
Here’s a glossary of terms related to Marfan’s Syndrome:
- Marfan’s Syndrome: A genetic disorder that affects the body’s connective tissue, causing various skeletal, cardiovascular, and ocular abnormalities.
- Connective Tissue: Tissue that supports, binds, or separates other tissues or organs, providing structural support and elasticity.
- Fibrillin: A protein that is a major component of microfibrils in connective tissue.
- Microfibril: A small fibril, composed mainly of fibrillin, found in the extracellular matrix of connective tissue.
- Aorta: The main artery in the body, which carries oxygenated blood from the heart to the rest of the body.
- Aortic Aneurysm: A bulge or ballooning in the wall of the aorta, which can be a complication of Marfan’s Syndrome.
- 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.
- Ectopia Lentis: Displacement or malposition of the lens of the eye, a common ocular feature of Marfan’s Syndrome.
- Arachnodactyly: Abnormally long and slender fingers and toes, a characteristic feature of Marfan’s Syndrome.
- Genu Valgum: Also known as “knock-knee,” a condition in which the knees angle inward and touch when the legs are straightened.
- Pectus Excavatum: A condition in which the breastbone sinks into the chest, giving the appearance of a caved-in chest.
- Scoliosis: A sideways curvature of the spine, which can be a skeletal feature of Marfan’s Syndrome.
- Mitral Valve Prolapse: A condition in which the valve between the left atrium and left ventricle of the heart does not close properly.
- Myopia: Nearsightedness, a common vision problem associated with Marfan’s Syndrome.
- Dural Ectasia: An abnormal widening or ballooning of the dural sac surrounding the spinal cord, which can cause back pain.
- Fibrillin-1: The gene that, when mutated, causes Marfan’s Syndrome.
- Zonules: Suspensory ligaments that support the lens of the eye.
- Osteoporosis: A condition characterized by low bone density, which can increase the risk of fractures.
- 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.
- Ocular Abnormalities: Abnormalities of the eye, such as lens dislocation, nearsightedness, and glaucoma, which are common in Marfan’s Syndrome.
- Cardiovascular Abnormalities: Abnormalities of the heart and blood vessels, such as aortic aneurysm and aortic dissection, which are serious complications of Marfan’s Syndrome.
- Echocardiogram: An ultrasound test that uses sound waves to produce images of the heart and blood vessels.
- Genetic Mutation: A change in the DNA sequence of a gene, which can lead to a genetic disorder such as Marfan’s Syndrome.
- Fibrillinopathy: A group of connective tissue disorders, including Marfan’s Syndrome, caused by mutations in the fibrillin gene.
- 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.