Marfan syndrome was named after the founder, Antoine Marfan in 1896, the syndrome is a genetic disorder of connective tissue. Individuals who are diagnosed with Marfan syndrome typically have lengthened limbs; they are tall and thin with long arms and legs. This disease can either be mildly or severely life threatening, depending on the individual.
Marfan Syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life. The defective gene that causes Marfan syndrome can be inherited. The child of a person who has Marfan syndrome …show more content…
Sometimes a new gene defect occurs during the formation of sperm or egg cells, making it possible for two parents without the disease to have a child with the disease. But that is rare. Two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome. Possibly 25 percent of cases are due to a spontaneous mutation at the time of conception. Although everyone with Marfan syndrome has a defect in the same gene, different mutations are found in different ways in different people. This phenomenon is known as variable expression. Scientists do not yet understand why variable expression occurs in people with Marfan syndrome
The are many methods that are used to diagnose Marfan syndrome. A detailed medical history of the patient, a detailed family medical history, and a physical examination. Sometimes it's easy to detect Marfan syndrome in an individual based on their physical features, but only if there …show more content…
and or in the world is marfan syndrome is treated using a few different methods which can range from restrictions of “physical activities, endocarditis prophylaxis, ECG every year and beta- blockers” just to hit a few. “Counseling for pregnant women who have high-risk pregnancy, risk of passing on a pathogen mutation of 50% to offsprings.” It also talks about seeking consultation with cardiologist, clinical geneticist, psychologist just to mention a few people. Doing surgery, staying active unless limited by the symptoms, but should stay away from strenuous activities, isometric workouts and competitive sports as well as contact sports”. Mentions of diet but with diet it is said that no specific change has to be made.” The new literatures finding on the diseases occurrence/ diagnosis are talks of overlapping phenotypes, similar inheritance patterns and some mutations in same gene, FBN1. “More than 500 reported fibrillin gene mutations have been reported, and most have affected individuals or their families.” Despite the intensive international efforts as reported, the correlation amongst the genotype-phenotype hasn’t yet been made. “Affected individuals get diagnosed during birth or thereafter, with unique features like ‘crumpled’ external ears, loose skin, congestive heart failure from mitral and tricuspid valves back flowing in the
Marfan Syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life. The defective gene that causes Marfan syndrome can be inherited. The child of a person who has Marfan syndrome …show more content…
Sometimes a new gene defect occurs during the formation of sperm or egg cells, making it possible for two parents without the disease to have a child with the disease. But that is rare. Two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome. Possibly 25 percent of cases are due to a spontaneous mutation at the time of conception. Although everyone with Marfan syndrome has a defect in the same gene, different mutations are found in different ways in different people. This phenomenon is known as variable expression. Scientists do not yet understand why variable expression occurs in people with Marfan syndrome
The are many methods that are used to diagnose Marfan syndrome. A detailed medical history of the patient, a detailed family medical history, and a physical examination. Sometimes it's easy to detect Marfan syndrome in an individual based on their physical features, but only if there …show more content…
and or in the world is marfan syndrome is treated using a few different methods which can range from restrictions of “physical activities, endocarditis prophylaxis, ECG every year and beta- blockers” just to hit a few. “Counseling for pregnant women who have high-risk pregnancy, risk of passing on a pathogen mutation of 50% to offsprings.” It also talks about seeking consultation with cardiologist, clinical geneticist, psychologist just to mention a few people. Doing surgery, staying active unless limited by the symptoms, but should stay away from strenuous activities, isometric workouts and competitive sports as well as contact sports”. Mentions of diet but with diet it is said that no specific change has to be made.” The new literatures finding on the diseases occurrence/ diagnosis are talks of overlapping phenotypes, similar inheritance patterns and some mutations in same gene, FBN1. “More than 500 reported fibrillin gene mutations have been reported, and most have affected individuals or their families.” Despite the intensive international efforts as reported, the correlation amongst the genotype-phenotype hasn’t yet been made. “Affected individuals get diagnosed during birth or thereafter, with unique features like ‘crumpled’ external ears, loose skin, congestive heart failure from mitral and tricuspid valves back flowing in the