Marfan Sydrome

Marfan syndrome is a is a genetic disorder of the connective tissue. It affects the entire body, but most notably, the heart.

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Marfan Sydrome

How many people in the US have Marfan syndrome?

It is estimated that one person in every 3000-5000 has Marfan syndrome, or about 50,000 people in the United States.

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Marfan Sydrome

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 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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What ratio of the population is suffering from marfan syndrome?

1:97

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Marfan Sydrome

How many Marfan syndrome sufferers develop ectopia lentis?

Between 50 and 80% of Marfan patients have dislocated lenses.

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What symptoms does Marfan syndrome?

People with Marfan syndome have problems with their eyes, heart, skeleton, and people with it are usually very tall and skinny

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Marfan Sydrome

What is the life expectancy of a patient with Marfan syndrome?

Recent advances in Marfan syndrome treatment have prolonged the life expectancy of patients considerably. Changes in how the syndrome is treated, including medication, surgical interventions, and monitoring for complications of the syndrome (eg, aneurysms), are all responsible for the increase in life expectancy. The prolongation in life expectancy can be seen by taking a look at statistics from 1972, in which the life expectancy was 32 years, and from 1996, where patients with Marfan syndrome had a life expectancy of 61 years.

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What may cause Marfan syndrome?

Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function of fibrillin-1.

The precise reasons for the mutations are unknown. How the mutation manifests as the Marfan syndrome is also uncertain. There is mounting evidence that the fibrillin-1 defect allows for unabated activity of transforming growth factor-beta (TGF-beta), which causes the clinical manifestations of the syndrome (eg, hyperextensible joints, arachnodactyly, dislocation of the lens, aortic aneurysm).

Because the condition is inherited in an autosomal dominant pattern, a parent with Marfan syndrome has a 50% chance of passing the defective gene on to his/her offspring.

Some diseases are also associated with features that resemble Marfan syndrome. For example, multiple endocrine neoplasia (MEN) type III is associated with what's been called a marfanoid habitus -- patients commonly have the elongated axial bones and hyperextensible joints seen in true Marfan syndrome. MEN-III is caused by a mutation in the RET gene on chromosome 10. It is inherited in an autosomal dominant pattern.

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Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?

It is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan.

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Does Marfan Snydrome effect life expectancy?

Marfan syndrome can result in sudden death due to increased risk for aortic dissection or aneurysm when undiagnosed or untreated. If diagnosed and managed early, patients can have a normal life expectancy.

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What is the inheritance pattern to Marfan Syndrome?

Marfan syndrome is an autosomal dominant disorder. An affected person has a 50% chance of passing it on to each offspring, regardless of gender.

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Can you catch the marfan syndrome from another person?

Yes you can catch it in many ways

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Abraham Lincoln
Marfan Sydrome

Did Abraham Lincoln have marfan syndrome?

Yes

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What are some symptoms of the marfan syndrome?

People affected with Marfan's typically have long bones that are longer than normal (i.e. longer than normal legs and arms), longer than normal fingers, joints that are naturally more flexible than the average person. They can also have problems with their heart, aortic artery, and eyes.

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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

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Marfan Sydrome

What is the age of onset of marfan syndrome symptoms?

When you are born, because it's genetic.

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Marfan Sydrome

Is marfan syndrome terminal?

No, it's not terminal in itself, but if the heart and aorta are not monitored properly, then there is a chance of sudden death by aortic dissection (the aorta tearing). So, it is definitely life-threatining. Therefore, someone with Marfan syndrome needs an echocardiogram, MRI, CT scan, or TEE of their entire aorta at least once a year to check for aneurysms and monitor their growth. If the aorta is growing rapidly or the valves are leaking a lot, more frequent monitoring is advised. Taking a medication to lower the blood pressure, like beta blockers. Preventative aortic surgery also extends the life expectancy. With proper monitoring, people with Marfan syndrome have an average lfe expectancy.

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Marfan Sydrome

What is the inheritance of marfan syndrome is an example of?

Pleiotropy.

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Marfan Sydrome

Did joey ramone have marfan syndrome?

Yes he had bot he never did outing of it

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Marfan Sydrome

What other name is Marfan syndrome known by?

Marfan syndrome is sometimes called arachnodactyly, which means "spider-like fingers" in Greek, since one of the characteristic signs of the disease is disproportionately long fingers and toes.

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Is there a famous person who has Marfan Syndrome?

Abraham Lincoln

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Marfan Sydrome

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.

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Marfan Sydrome

Can you catch the Marfan Syndrome from somebody the way you can catch the flu?

No, Marfan Syndrome is an inherited disorder of connective tissue. It is not an infectious disease.

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Does any famous person have Marfans Syndrome?

Abraham Lincoln had it and Michael Phelps still has it. do any supermodels have mar fans syndrome

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Marfan Sydrome

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 syndrome

  • 75% 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.
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