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Doctor insights on: Marfan Affect My Children

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What are the chances for a man with Marfan syndrome to pass it on to his children?

What are the chances for a man with Marfan syndrome to pass it on to his children?

50% for each child: Marfan syndrome is caused by a mutation of the fbn1 gene on chromosome 15. An affected man (or woman) has one normal and one mutant fbn1 gene in each of his (or her) cells. For each of his children, the chance that he will pass on the mutation is 1/2 or 50%. This pattern of inheritance is called autosomal dominant.

Dr. Scott McLean
335 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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My daugther is 7 year old n not to long ago i knew she got marfan's n i don't know what to do or waz going to happend im new on thiz..What is marfan's?

My daugther is 7 year old n not to long ago i knew she got marfan's n i don't know what to do or waz going to happend im new on thiz..What is marfan's?

Marfan.org: The marfan foundation has a wonderful website at www.Marfan.Org. There is a lot of information there to help families understand living with marfan syndrome. There is also an annual family conference. The next annual family conference is in july 2014 in baltimore.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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I might have marfan, what should I do?

Med Eval: See your doctor. He or she can determine if you meet the international criteria for diagnosis.

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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.

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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.

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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.

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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.

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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.

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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.

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