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French doctor Bernard J.A. Marfan in 1896.
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Who is Marfan syndrome named after?
It is named for the French pediatrician, Antoine Marfan (1858-1942), who first described it in 1896.
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 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 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 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.
Is there a cure to marfan syndrome?
Met a family in a hospital waiting room with a family member with this disorder. I know very little:[ 1] Marfan syndrome is more commonly noted among a small subgroup of a certain type of exceptionally tall individuals.[2] It can "run in the family" so if it's in your family AND you are also exceptionally tall then you probably want to get yourself checked over by a special doctor that has had extra training about how to screen for Marfan syndrome as well as having had special training which focused on the latest research & additional knowledge about the specific way Marfan's syndrone affects people's body functions if they have it; [3] it is prudent to ask your own family doctor about Marfans syndrome first additionally then asking them about their own personal experience treating or diagnosing patients with this specific syndrome. (Some doctors may not be familiar with Marfans or only vaguely aware of what it is but unable to really provide specialized evaluation or treatment for it.) Best wishes.
What are the history of disease?
It is named after John H. Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy, after Down Syndrome, that carries to term.
Who discovered ehlers-danlos syndrome?
Ehlers-Danlos Syndrome was discovered by Edvard L. Ehlers, a Danish dermatologist who first discovered the disease in 1901. Henri-Alexandre Danlos, a French dermatologist published his own description of the disease in 1908.
