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Doctor insights on: Marfan Syndrome Pedigree Chart

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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

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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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?

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

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How to know if I have 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

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How to tell if I have Marfan syndrome?

See the details: If you are tall, have very flexible joints, have any issues with the lenses of your eyes as well as other numerous finding on exam, you may have it. Have your doctor take a look or refer you to a rheumatologist. ...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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Question: what is Marfan syndrome really?

Question: what is Marfan syndrome really?

Www. Marfan. Org: Fibrillin-1 gene defect leads to inefficient connective tissue building. It is inherited 70% of time. Symptoms occur in any organ that is dependent on healthy connective tissue such as the heart, lungs, skin, eyes. Marfans are tall people with thin narrow face, scoliosis, heart disease, small jaw, spidery fingers, flat feet, abnornal chest bone. You should see your dr if you suspect having it. ...Read more

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What are the symptoms of Marfan syndrome?

Long arms, fingers: Tall, thin appearance. Pigeon chest (pectus carinatum), long fingers (arachnodactyly), dilated aorta (seen on echocardiogram). Dislocated lens in the eye. Severe near sightedness. Scoliosis. Flat feet. High arched palate. Thin head with small cheekbones.
Most symptoms involve heart, musculoskeletal and eyes. It is inherited in an autosomal dominant fashion. ...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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What are the symptoms of Marfan syndrome?

Congenital: Congenital condition which can cause hypermobility of joints, eye lens dislocation and aortic dissection. ...Read more

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How to figure out if I have Marfan syndrome?

Testing: Physical exam and blood tests can help to determine whether you have marfan's syndrome. ...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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I have Marfan syndrome. Should I not have kids?

Maybe not: A Marfan syndrome woman has a 50% chance of having a Marfan syndrome baby, if the father of the baby is "normal". During pregnancy, the woman needs close monitoring because she is at increased risk of rupturing her aorta (often fatal). For these reasons, she may not want to become pregnant. ...Read more

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How does a baby get tested for Marfan syndrome?

How does a baby get tested for Marfan syndrome?

See a geneticist: There are many options for genetic testing for Marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help. ...Read more

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What can you tell me about the Marfan syndrome?

Marfans syndrome: Inherited disorder of connective tissue but can be sporadic. Usually dx in adolescence. Affects: Skin, bone (teeth, spine), eyes (lens dislocation), nervous and cardiovascular system (aorta, associated with mitral valve prolapse). Features: Tall, thin, long arms & legs, fingers. ...Read more

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Can people with Marfan syndrome live long lives?

Varies by severity: People with mild Marfan syndrome symptoms probably live a pretty normal lifespan. Those with severe symptoms can die from heart valve problems, rupture of the aorta, tension pneumothorax, etc..., before they reach old age. Of course, those with moderate symptoms will have a lifespan in between. ...Read more

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What tests are done to diagnose Marfan Syndrome?

Multiple: There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation. ...Read more

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I think I have Marfan syndrome, what should I do?

I think I have Marfan syndrome, what should I do?

Doctors can evaluate: A person who may have Marfan syndrome should see his doctor and a geneticist to confirm the diagnosis. If confirmed, he can get more information from the national Marfan foundation website. He should also see specialists, such as a cardiologist to check the heart and aorta, an ophthalmologist to check the eyes, etc... He can notify his relatives to check their aortas, etc... ...Read more

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Is Marfan syndrome physically limiting for people?

Is Marfan syndrome physically limiting for people?

Over-exertion is bad: Marfan syndrome persons should avoid contact sports. If symptoms are on the moderate to severe side, they can participate in non-contact, non-strenguous activities such as golf, bowling, walking, yoga, or tai-chi. If mild to moderate in severity, they can try non-contact, moderately strenguous activities such as biking or swimming. The national Marfan foundation website is helpful. ...Read more

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Does being very tall mean you have Marfan syndrome?

Does being very tall mean you have Marfan syndrome?

Not Necessarily: But it is possible. A visit to the doctor with that question in mind should provide the answer. ...Read more

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Can people with Marfan syndrome still fly on planes?

Usually yes: A Marfan syndrome person with a current or recent pneumothorax (collapsed lung) should not fly (unless the airplane stays close to his airport's altitude) because the decrease in outside air pressure as the airplane ascends can allow his pneumothorax to enlarge and compress the lungs and heart. ...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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At what age can you tell a child has Marfan syndrome?

At what age can you tell a child has Marfan syndrome?

Varies: Sometimes a diagnosis of marfan's syndrome can be obvious from birth. In most cases, the features (long fingers and toes, angular face), take longer to see. Sometimes it isn't picked up until the person has an aortic dissection or vision problems the lens of the eye is affected. ...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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How will having Marfan syndrome affect my long-term health?

Cardiovascular: Heart & blood vessel problems are most likely to impact your health. Also detached retina, collapsed lung, learning disabilities. See pubmed article on marfan's : www. Ncbi. Nih. Gov/pubmedhealth/pmh1455/#adam_000418.Disease. Signs. Or www. Marfan. Org. ...Read more

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Can you tell me the features of the disorder Marfan syndrome?

Marfan's syndrome: It is a broad topic. Difficult to cover here. Please refer to the site:
http://en. Wikipedia. Org/wiki/marfan_syndrome. ...Read more

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Need a simple explaination for this. What is Marfan syndrome?

Genetic disease: Marfan syndrome is a genetic disease affecting the "connective tissue" in the body, with effects in various organ system. True Marfan syndrome is caused by a mutation in the fibrillin-1 gene, located on chromosome 15. Inheritance is autosomal dominant, and it appears that about 25% are spontaneous mutations. Serious effects on the structure and function of the heart, aorta, eyes, and bones. ...Read more