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Doctor insights on: Marfan Syndrome How Does It Affect The Skin

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Is it possible to have extra stretchy skin without having some serious underlying condition like Ehlers-Danlos syndrome or Marfan Syndrome?

Is it possible to have extra stretchy skin without having some serious underlying condition like Ehlers-Danlos syndrome or Marfan Syndrome?

Potentially: There certainly is a variation in what is considered normal for skin elasticity. Don't hesitate to be seen if there is a question. A biopsy can usually be pretty definitive if there'd is any question about the diagnosis. ...Read more

Dr. Scott McLean
336 Doctors shared insights

Marfan Syndrome (Definition)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length ...Read more


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Is Marfan syndrome a sex-linked disease?

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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How can I tell if I have Marfan syndrome?

Abraham Lincoln: Lanky like abraham lincoln - arm span longer than height and there is a high-arched palate that is characteristic, but also found in normal individuals. ...Read more

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How can you tell if you have Marfan syndrome?

Having the features: Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... A person with several of these features can see a doctor for evaluation. ...Read more

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Can you give me the karyotype of the Marfan syndrome?

Marfans: A karyotype of someone with Marfan's Syndrome would look no different than a normal karyotype. That is because Marfan's is caused by as little as one mutation to one gene (fibrillin-1), and this mutation would not be visible in a karyotype. It is a dominant trait and if one parent is affected, it may be passed to their child. ...Read more

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What is the definition or description of: Marfan syndrome?

What is the definition or description of: Marfan syndrome?

Marfan Syndrome: An inherited connective tissue disorder. Body shape is long thin arms hands and fingers. Arm length is greater than height. Eye and heart problems are also associated with Marfan Syndrome. ...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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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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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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What chromosome is affected by Marfan syndrome?

Chromosome 15: Marfan syndrome is caused by a mutation in the fbn1 gene on chromosome 15. The "address" for this gene is 15q21.1. This gene codes for a protein called fibrillin-1. Inheritance is autosomal dominant. ...Read more

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Can patients with mild Marfan syndrome build body?

Yes, but...: Marfan as you know designates that you have very loose joints and hyperextensibility. Unfortunately this same flexibility may also apply to your heart valves or large blood vessel--the aorta--just outside the main pumping chamber of your heart. Therefore, you should receive clearance from your cardiologist before doing any serious weight lifting or resistance training traditional for body building. ...Read more

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Could I detect Marfan syndrome before or after birth?

Yes, prenatally: Prenatal diagnosis of Marfan syndrome is possible through DNA testing of fetal tissue obtained by chorionic villi sampling or amniocentesis. ...Read more

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How effective is a vitrectomy for treating Marfan syndrome?

How effective is a vitrectomy for treating Marfan syndrome?

Effective: I have attached a study that looked at the success of vitrectomy surgery in people with Marfan's and it had 45 patients with 53 surgeries and listed successful reattachment 86% of the time
http://www. Ncbi. Nlm. Nih. Gov/pubmed/12172108 ...Read more

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Why does my Marfan syndrome teenager complain of being giddy?

Worth an Evaluation: Simpler to get them checked out for complications and sleep knowing they are ok.

http://www. Marfan. Org/marfan/2493/. ...Read more

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Is Marfan syndrome sex-linked or prevalent in certain ethnic groups?

Is Marfan syndrome sex-linked or prevalent in certain ethnic groups?

Neither: Marfan syndrome affects males and females equally, and the mutation shows no ethnic or geographical bias. Estimates indicate about one in 3, 000 to 5, 000 individuals have Marfan syndrome. ...Read more

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Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Several features: Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...Read more

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I have Marfan syndrome. Is there tests that can prolong my life expectancy?

I have Marfan syndrome. Is there tests that can prolong my life expectancy?

An echocardiogram: If you have Marfan syndrome, you should be aware that your cardiologist can use ultrasound to watch for the gradual enlargement of your aorta. Depending on your age, height, and weight, she can determine whether your aorta is growing larger than normal and recommend either medicine, like a beta blocker, or surgery to prevent dissection or rupture of the aorta. ...Read more

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Does someone with celiac disease have a higher risk of also having Marfan syndrome?

No association: Don't believe that there is any association between the two. ...Read more

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Do people with Marfan Syndrome ever stop growing in height and if so is it about the same time others without the disease stop growing?

Do people with Marfan Syndrome ever stop growing in height and if so is it about the same time others without the disease stop growing?

Yes: There are multiple potential. Abnormalities associated with marfans, such as scoliosis, for example; but they do typically reach skeletal maturity (stop growing) at a similar age as those without marfans. In general, their height is taller than average and they tend to be slender. ...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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What are the differences between Marfan syndrome and ehler-danlos syndrome?

Some similarities: Ehler-danlos syndrome is a group of disorders, caused by a different mutation than the one that causes Marfan syndrome. Some types of ehler-danlos syndrome also have rupture of the aorta as a potential problem. Ehler-danlos patients can have some skeletal features similar to those of Marfan patients. ...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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What is Marfan syndrome?

Marfans/ehler danlos: Marfan syndrome is a connective tissue disorder, tissues that strengthen bodies structures.
In most cases it is inherited condition, but approx 30% of patients have no family history
tall arms and height, affects lungs, heart and aorta, eyes causing cataract, skin problems, and tissue covering the spinal chord. ...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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What exactly is Marfan syndrome?

What exactly is Marfan syndrome?

Genetic disorder: Fbn1 gene controls connective tissue metabolism. If there are mutations or repeats, then marfa's will result. The symptoms are the result of malformed collagen. So dislocated lens in eye, heart valve problems, scoliosis, pneumothorax, artery problems may occur. Most cases are inherited, but occasionally marfan's occurs from a spontaneous mutation. This gene can be tested for in a blood specimen. ...Read more

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How dangerous is Marfan syndrome?

Marfan syndrome: Affects the body's connective tissue and can cause problems in the eyes, joints, and heart. Marfan syndrome has no cure, but doctors can provide symptomatic management. ...Read more