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Doctor insights on: Marfan Syndrome Chest

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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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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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Can ehler's danlos syndrome lead to aaa?

Can ehler's danlos syndrome lead to aaa?

Type IV can: Ehlers-danlos syndrome is a genetic disorder of the collagen fibers in the body (the stuff that keeps the tissues tough). There are several types. It is type IV which may lead to aneurysms, ruptures, or dissections. There are genetic tests that can be done to diagnose this. If you have it, regular screening of the large vessels (aorta) with a ct scan is recommended. ...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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Is ?Hypoplastic left heart syndrome genetic?

Is ?Hypoplastic left heart syndrome genetic?

Yes - multifactorial: 2-6% recurrence risk with 1-2 prior affected siblings and up to 25% recurrence risk in familial autosomal recessive rare cases. ...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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Does aneuploidy cause Marfan syndrome?

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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Is WPW related to Marfan syndrome?

Yes: There is a higher incidence of WPW in marfan's syndrome than in the general population. ...Read more

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Perindopril and Marfan syndrome. Enlarged mitral valve?

Perindopril and Marfan syndrome. Enlarged mitral valve?

MVP: You can get mitral valve prolapse but an enlarged aortic root is the more serious association with Marfan's. ...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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Does Marfan syndrome skip generations?

No, but. . .: Marfan synd. Doesn't skip generations, but sometimes it's mild enough that the person who seemed to have skipped the disease actually had a mild case of it. Also, it is possible that a child of a marfan synd. Parent doesn't inherit the mutation (child is normal), but that child's child or grandchild gets a new mutation or marries a mild, undiagnosed marfan patient... Leading to future marfan kids. ...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

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Has anyone heard of ehlers danlos syndrome causes?

Has anyone heard of ehlers danlos syndrome causes?

Genetics: Ehlers-danlos is a genetic condition. There are no other known causes. ...Read more

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Common symptoms of Marfan's syndrome?

Marfan Syndrome: There is significant variability in how marfan syndrome presents in people. Possibly symptoms include: tall height; long arms, legs, fingers & toes, heart murmur, curved spine, flat feet, nearsightedness & deformity of the breast bone. ...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