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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.
Who is Marfan syndrome named after?
It is named for the French pediatrician, Antoine Marfan (1858-1942), who first described it in 1896.
How Was Marfan Syndrome Discovered?
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.
Is Marfan Syndrome common in a specific race?
About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
How common is Marfan syndrome in the general population?
How Common Is Marfan Syndrome?According to the National Marfan Foundation - Marfan.org - 1 in every 5,000-7,000 babies born is a child with Marfan syndrome. Other statistics about Marfan syndrome75% of people with Marfan syndrome have an affected parent.Approximately 25% of all cases are due to de novo(spontaneous) genetic mutations. This means they are the first person in their family to be affected.Marfan syndrome is an autosomal dominant mutation; this means that, if the mutation is present, the person has the syndrome to at least a mild degree. It can not skip generations. A person with Marfan has a 50% chance of passing it on to their children.Estimates indicate that approximately 0.02% of the global population has Marfan syndrome.Marfan syndrome is found equally in all ethnicities.
Why are eye conditions important in diagnosing cases of Marfan syndrome?
Although the visual problems that are related to Marfan syndrome are rarely life-threatening, they are important in that they may be the patient's first indication of the disorder.
What is the genotype of an individual who has Marfan syndrome?
Marfan is an autosomal dominant disorder, which means that if someone inherits a defected gene from either parent, he will have Marfan syndrome. 75% of people with Marfan got it from their parents; the other 25% were the result of random mutations that happened in the first days or weeks of the pregnancy. This syndrome is caused by a mutation in the FBN1 gene on chromosome 15, which is necessary for structural and maintenance of elastic, connective tissue fibers. Everyone has this gene in them. There are over 600 different mutations on FBN1 that can cause Marfan. FBN1 mutations can also result in other disorders as well, like ectopia lentis and MASS Phenotype.
What conditions or diseases can contribute to the formation of bunions?
Various arthritic conditions and several genetic and neuromuscular diseases, such as Down syndrome and Marfan syndrome, cause muscle imbalances that can create bunions from displacement of the first metatarsal and big toe.
What is the techinal name for marfan syndrome?
The name was first called arachnodakryly, from the Greek word " Spider" Arachne because Antoine Marfan had a patient, a five-yeard-old girl, who compared her legs to the leg's of a spider. I don't think theres any technical name.
What disease first appeared in the 1980s?
aids (Aquired immune difficiency syndrome) A+
What is Weil's syndrome?
Ten percent of the persons infected with Leptospira develop a serious disease called Weil's syndrome. The symptoms of Weil's syndrome are more severe than those described above and there is no distinction between the first and second stages of disease.
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
