Doctor insights on:
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 moreSee 1 more doctor answer
Marfan's syndrome is a genetic disorder caused by defects in a protein called fibrillin that, along with collagen, provides most of the structural support of our tissues. Individuals with Marfan's are often tall, lanky, have long arm spans, and are hyperflexible. The most serious complication of Marfan's is caused by defects in the wall of the aorta, the large blood vessel that leaves the heart and supplies the ...Read more
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
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. ...Read more
See below: National marfan foundation web-site has valuable information. ...Read more
How accurate is genetic testing for Marfan syndrome? If child has some features, is it worth testing? Docs check his heart & scoliosis. Is that enough
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
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