Doctor insights on:
Common Symptoms Signs Marfan Syndrome
Quite varied...: Marfan syndrome is an inherited disorder that affects connective tissue. Symptoms can include: tall and slender build; disproportionately long arms, legs, fingers and toes; a breastbone that protrudes outward or dips inward; a high, arched palate and crowded teeth; heart murmurs; extreme nearsightedness; an abnormally curved spine; or flat feet. ...Read more
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
Very tall: The width is greater than the height--if so see your doctor ...Read more
Not Entirely Common: Marfan's patients can have spontaneous collapse of the lungs (known as pneumothorax). I would not say it is very common but it can occur. Typically marfan's patients have small air pockets at the top of the lungs called blebs. These blebs can rupture causing an airleak into the space between the lung and the chest wall. The air pushes on the lung causing the collapse. ...Read moreSee 1 more doctor answer
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
Can you still have Marfan syndrome without haveing long limbs? I have all the other symptoms and my doctor thinks it's a possibility.
Unusual: Each patient with marfan syndrome has a different presentation. Without long limbs (arms/legs) it would be unusual to have true marfan syndrome, but those findings are not very important diagnostic criteria. The cardinal features aortic root dilation (aneurysm) and dislocated lenses. The website http://www.Marfan.Org is helpful to patients and physicians. ...Read moreSee 1 more doctor answer
15y son 140lb 170cm concaved chest crowded teeth no high arch mouth face a looks normal 2 stretch marks on back no other symptoms Marfan syndrome?
Diagnosis ?: Are you asking us to give you a firm diagnosis for your son's symptoms over the internet? You need to have your son be seen by your own primary care physician who can refer you to a specialist if necessary. Also need to have your son be seen by a local dentist to evaluate any dental abnormalities. ...Read more
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
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
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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