Doctor insights on:
Does Marfan Affect The Brain
I am able to do the hand signs for Marfan syndrome but wasn't diagnosed yet, can I just look like a marfan?
Doctors can evaluate: A person with a few of the marfan syndrome features can see a primary care doctor and a geneticist. The geneticist specializes in diagnosing genetic disorders such as marfan syndrome. A person has to have a certain number of signs & symptoms before he is diagnosed as marfan syndrome. If less than the minimum signs & symptoms, he may have marfanoid habitus (appearance) but not have marfan syndrome. ...Read moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
Www.marfan.org: Marfan syndrome is a genetic abnormality affecting the fbn1 gene. It is thought of as a "connective tissue" disease. People with marfan have varying levels of abnormalities of the skeleton, their heart, their eyes, and their lungs. The marfan foundation has a great website at www.Marfan.Org. At the site, there is important information about diagnosis, with recommendations. ...Read moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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. ...Read moreSee 1 more doctor answer
Not that I know: The only likely association i can think is klinefelter's sydrome. But this is not close. Ks is only in males, they tend to be taller than average (similar to marfan's) and may have motor delays and learning problems (similar to autism) . But they usually lack the main features of profound communication and social skills impairment of as. Many/most klindefelter's appear entirely normal. ...Read moreSee 2 more doctor answers
See below:: Ehlers–danlos syndrome (eds) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (type i or iii). Marfan's syndrome is a genetic disorder of the connective tissue. People with marfan's tend to be unusually tall, with long limbs and long, thin fingers. It is caused by defects in a gene called fibrillin-1. ...Read more
Genetic link?: I found no specific references to a genetic link between marfan & cutis marmorata other than possibly in a rare form of homo-cystenuria "arising due to cystathionine beta-synthase deficiency, an autosomal recessive disorder that produces increased urinary homocysteine and methionine. (continued in comment—>. ...Read more
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