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Who discovered the Marfan Syndrome?

Updated: 9/11/2023
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13y ago

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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 symptoms

One 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

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13y ago
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15y ago

probably Marfan probably Marfan

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Q: Who discovered the Marfan Syndrome?
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Related questions

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 disease was found in 1896, by a French doctor named Antione B. Marfan


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.


Is marfan syndrome automsomal dominant?

Yes, Marfan syndrome is autosomal dominant.


What does Marfan syndrome mean?

Marfan Syndrome is a medical problem with the Conective Tissue.


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 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.


The inheritance of Marfan syndrome is an example of?

The "autosomal dominant" method of inheritance. if your question as Marfan syndrome is the result of inheriting a single allele. Individuals with Marfan syndrome are tall and long-limbed, and have both cardiovascular and eye defects. The inheritance of Marfan syndrome is an example of ______. then the answer is pleiotropy


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