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Marfan syndrome was first described by Antoine Marfan, a French pediatrician, in 1896. He observed a unique set of physical features in a 5-year-old girl, which led him to identify the syndrome as a distinct medical condition. Over time, further research and advancements in genetics have helped to better understand the underlying causes and manifestations of Marfan syndrome.
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When marfan syndrome was discovered?
Marfan syndrome was first described by Antoine Marfan, a French pediatrician, in 1896. He identified the unique characteristics of the syndrome, including tall stature, long limbs, and heart problems.
Is marfan's syndrome sex linked?
Marfan syndrome is not sex linked. It is autosomal dominant and found equally in all genders and ethnicities.
Is there any research being done on Marfan Syndrome?
Yes, there is ongoing research on Marfan syndrome, a genetic disorder that affects the body's connective tissue. Researchers are studying the underlying genetic mutations, developing new treatment options, and exploring ways to manage the symptoms and complications associated with the condition. Collaborative efforts between scientists, medical professionals, and advocacy groups aim to improve understanding and care for individuals with Marfan syndrome.
Who discovered the Marfan Syndrome?
Antione B. MarfanMarfan syndrome was first described by a French doctor named Antione B. Marfan, who reported that one of his patients, Gabrielle, had especially long fingers (he called this arachnodactyly, or spider-fingers), skeletal abnormalities (including arms that were disproportionately long), and high, arched pallets. He also noticed spine defects. Antione noted that these traits seemed to be inherited, and it is now certain that Marfan syndrome is a hereditary disorder, and the gene for it is autosomal dominant A dominant gene is one that will overwrite other genes so that only one is required for the trait that that particular gene carries to be expressed. A person who inherits a dominant gene from one parent will automatically have the trait that the gene produces, unlike with recessive genes in which a gene for the trait must be inherited from each parent for the trait to show. Autosomal means that the gene is on a non-sex chromosome. There are 46 chromosomes in every human cell, and they make 23 pairs, each one connected by a centrome. The 23rd pair consists of the sex chromosomes.The gene for Marfan syndrome is located on chromosome fifteen. This gene causes the occurrence of too many microfibrillar fibers in the connective tissue, which results in a lack of flexibility in the body's tissues.Marfan syndrome almost always occurs as an inherited trait (about 75% of the time), but it can sometimes show up spontaneously in a person from a family that has never shown any signs of the disorder. Marfan syndrome, because it is dominant, will not skip generations (a recessive gene can be passed on without showing up for many generations, because two are needed for the trait to show, but if a dominant gene is going to show up, it will do so right away). Marfan syndrome has a 50% chance of being passed on to the children of an affected person. If the gene for Marfan syndrome is passed on, it will invariably show up, but the degree to which it shows its symptoms varies considerably, even within a family.Skeletal abnormalities that have been noticed in Marfan patients are a long face, an unusually tall stature, a short upper body in comparison to the lower body (because they have a short ribcage), and overgrown ribs. The latter results in chest deformities such as Pectus Excavatum (funnel chest) or Pectus Carnatum (pigeon breast). A wide pelvis, elongated skull, and prominent shoulder blades are other symptomsOne of the most distinctive characteristics of Marfan's Syndrome is unusually long arms, fingers, and toes. These skeletal problems can show up in either childhood or adolescence, and sometimes they do not show up at all Extremely mobile joints are another common characteristic.A good many patients have eye problems, like dislocated lenses, severe nearsightedness, iridodensis (a quivering motion of the iris), cataracts, detaching retinas, and glaucoma.The life-threatening risk to Marfan syndrome is that the aorta can grow to be too large, develop weak spots (aneurysms) and then tear (dissect). Without surgery, a person can die.People with Marfan's Syndrome often suffer from various lung problems as well.For more information www.marfan.org
Who discovered xyy syndrome?
by some person
When was the mutation responsible for Marfan syndrome discovered?
The genetic mutation responsible for Marfan was discovered in 1991.
When marfan syndrome was discovered?
Marfan syndrome was first described by Antoine Marfan, a French pediatrician, in 1896. He identified the unique characteristics of the syndrome, including tall stature, long limbs, and heart problems.
When did Antoine B. Marfan discover this disease?
Antoine Marfan, a pediatrician, discovered this disease in 1896. It is now called Marfan syndrome. It is a hereditary disorder of the connective tissue.
What are the chances of getting marfan syndrome?
Marfan syndrome is found in 1 in every 5,000 - 10,000 births. If one of your parents has Marfan syndrome, you have a 50% chance of having Marfan syndrome.
What does Marfan syndrome mean?
Marfan Syndrome is a medical problem with the Conective Tissue.
Is marfan syndrome automsomal dominant?
Yes, Marfan syndrome is autosomal dominant.
Is Marfan syndrome contagious?
Marfan's syndrome is not contagious. A person can only get it by inheriting it from a parent.
Is Down Syndrome the same as Marfan Syndrome?
No. Down is caused by an extra chromosome while Marfan is due to a mutation in one or more genes.
What are other names for Marfan Syndrome?
Marfan Syndrome is also known as Marfan's disease and hereditary connective tissue disorder. In some contexts, it may be referred to as Marfan syndrome type I or simply as a connective tissue disorder. However, the most common and widely recognized name remains Marfan Syndrome.
What year was Marfran syndrome discovered?
Named after Antoine Marfan, the French doctor who discovered it in 1896, Marfan syndrome is a disorder that affects the body's connective tissue, which is found everywhere in the body. Think of it as a type of "glue" that helps support all of your organs, blood vessels, bones, joints, and muscles.
What can be some symptoms for Marfan's syndrome?
flat feet an sinked chest are some symptomes of marfan syndrome
What effects can marfan syndrome have on a persons life?
They cant exercise as vigorously as someone without Marfan syndrome
