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How many cases are known for Marfan syndrome?
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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.
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.
Is marfan syndrome a single gene disoder or multiple?
Marfan syndrome is primarily caused by mutations in the FBN1 gene, which encodes a protein called fibrillin-1. However, there are rare cases where mutations in other genes can also lead to a Marfan-like syndrome. So, it can be considered a single gene disorder with some exceptions.
How does a person inherit marfan syndrome?
Marfan syndrome is an inherited disorder that is typically passed down from one generation to the next through an autosomal dominant pattern of inheritance. This means that if one parent carries the Marfan syndrome gene, there is a 50% chance that they will pass it on to each of their children. In some cases, Marfan syndrome may also occur as a result of a spontaneous genetic mutation.
Why is rapid genetic diagnosis impossible in cases of Marfan syndrome?
Mutations of the fibrillin gene (FBNI) are unique to each family affected by Marfan, which makes rapid genetic diagnosis impossible, given present technology.
What is marphan not sure of spelling syndrome?
The Marfan syndrome is a connective tissue disorder. The Marfan syndrome is inherited and affects many parts of the body. There's no single test for diagnosing it, but people who have it often have many similar traits. Besides perhaps having heart problems, people with the Marfan syndrome are often tall and thin. They also may have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems. Sometimes the Marfan syndrome is so mild that few symptoms exist. In the most severe cases, which are rare, life-threatening problems may occur at any age.
Is dialysis necessary after heart surgery?
Dialysis is only necessary in cases of kidney failure. In most cases, heart patients do not also have kidney failure, and if they do, they are in serious trouble. Therefore, no, in most cases dialysis is not necessary after heart surgery.
Why is there no diagnostic test for Marfan syndrome?
There is no objective diagnostic test for Marfan syndrome, in part because the disorder does not produce any measurable biochemical changes in the patient's blood or body fluids, or cellular changes that could be detected from a tissue sample.
When is surgery necessary to correct malocclusion?
In severe cases of malocclusion, surgery may be necessary and the patient would be referred to yet another specialist, an oral or maxillofacial surgeon.
Why may a diagnosis of Marfan syndrome be missed?
In many cases, the patient may have few or very minor outward signs of the disorder, and the diagnosis may be missed until the patient develops vision problems or cardiac symptoms.
What is the treatment for central cord syndrome?
Usually, intravenous steroids are immediately administered to patients suspected of suffering from central cord syndrome, to decrease swelling and improve outcome. Surgery may be performed in certain cases.
