Doctor insights on:
Marfan Affect My 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.
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.See 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.
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.See 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.See 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.
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.
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.
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.See 1 more doctor answer
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