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Doctor insights on: Marfan Syndrome Criteria

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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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Dr. Scott McLean
338 doctors shared insights

Marfan Syndrome (Definition)

An inherited disorder that affects connective tissue where one's body shape is long, with thin arms, hands, and fingers, and when the total arm length is greater ...Read more


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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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Mike Moore Dr. Moore
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Ehlers danloss symdrome ?

Mike Moore Dr. Moore
4 doctors agreed:
Ehlers danloss symdrome ?

"Ehlers–Danlos": Ehlers–danlos syndrome (also known as "cutis hyperelastica") is an inherited tissue disorder caused by a defect in the body's synthesis of collagen. Collagen in connective tissue helps tissues to resist deformation. In the skin, muscles, ligaments, blood vessels and organs, collagen plays a very significant role and with increased elasticity or "stretchiness" they may not work right. ...Read more

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Is Marfan syndrome preventable?

Is Marfan syndrome preventable?

Sometimes: Marfan syndrome is preventable when the adults who know they have marfan syndrome thoughtfully choose not to have biological children (50% of their children would have the disease). Some cases are not preventable, such as the 20-30% of marfan syndrome persons who have the disease from a new mutation (neither parent had a mutation). ...Read more

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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read more

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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Is Marfan syndrome a sex-linked disease?

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl. ...Read more

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What is Marfan syndrome?

What is Marfan syndrome?

Genetic disorder: Of connective tissue that affects many bodily systems.The national marfan foundation has a very nice website that will answer any questions you have about marfan syndrome. Go to www.Marfan.Org. ...Read more

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What causes Marfan syndrome?

What causes Marfan syndrome?

Genetic mutation: Marfan syndrome is caused by a gene mutation (in the fbn1 gene). A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue. ...Read more

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Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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Does aneuploidy cause Marfan syndrome?

Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read more

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Could I have type 3 (hypermobility) ehlers danlos syndrome or hypermobility syndrome? My parents don't have eds.

Could I have type 3  (hypermobility) ehlers danlos syndrome or hypermobility syndrome? My parents don't have eds.

Unlikely.: Ehlers danlos is an inherited condition, so if it doesn't run in your family, it's very unlikely that you have it. If your joints are unusually flexible you may just be more limber than normal. But if you are worried about it, see your doctor and find out for sure. ...Read more

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Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

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How rare is having ehler danlos syndrome?

How rare is having ehler danlos syndrome?

Ehlers-Danlos: The frequency of ehlers-danlos syndrome (all types) has been reported as 1 per 5000 to 1 per 10, 000 in the population. The exact prevalence and incidence of ehlers-danlos syndrome is unknown. Ed is a family of conditions that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues. ...Read more

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What is Marfan syndrome?

Genetic disorder: Of connective tissue that affects many bodily systems.The national marfan foundation has a very nice website that will answer any questions you have about marfan syndrome. Go to www.Marfan.Org. ...Read more