Does anyone know anything about Marfan Syndrome?
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The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.
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Sorry about the tension. That's a pain. I too have a relative that is very different than the rest of us but I have concluded that there was some sort of genetic mutation and leave it at that.
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Marfan syndrome is a genetic connective tissue disorder characterized by unusually long limbs and fingers. The disease also affects other structures and organs — including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate — in less visible ways. It is named after Antoine Marfan, the French pediatrician who first described it in 1896.\n\nCause\nMarfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. Marfan syndrome is also an example of a dominant negative mutation. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. For instance it has been found that simply reducing the level of normal fibrillin-1 causes the Marfan related disease in mice [1].\n\nMore recently, transforming growth factor β (TGFβ) has been shown to play an important role in Marfan syndrome. Fibrillin-1 binds TGFβ, inactivating it. In Marfan syndrome, reduced levels of fibrillin-1 allow TGFβ to damage the lungs and heart. New treatments for Marfan, using antagonists of TGFβ, are being investigated (Habashi et al., 2006 Science 312(5770):117-21).\n\nDiagnosis\nAlthough genetic testing is available, a diagnosis is usually made solely on clinical findings. A clinical diagnosis uses specific criteria that were established in 1996.[2]\n\n\nEpidemiology\nBecause Marfan syndrome is caused by an autosomal dominant genetic defect, each parent with the condition has a 50 percent chance of passing it on to a child. Most individuals with Marfan syndrome have another affected family member, but about 1/4 to 1/3 of all cases are due to de novo genetic mutations. Such spontaneous mutations occur in about 1 in 20,000 births. Estimates indicate that perhaps 1 in 5,000 people (0.02 percent of the population) have Marfan syndrome. It affects all races and both sexes equally.[3]\n\n\nSymptoms\nThe most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is cystic medial necrosis predisposing to dissecting aortic aneurysm.\n\nMarfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptoms include; abnormal joint flexibility, high palates, small jaws, flat feet, stooped shoulders, unexplained stretch marks, and dislocation of the optic lens in the eye (ectopia lentis). Some people with Marfans have speech impediments as a result of the high palates and small jaws.\n\nNearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or displacement of the lens in one or both eyes.[4]\n\nDural ectasia is a major indicator of Marfan syndrome. It is a dilation of the dural sac surrounding the spinal cord.
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My son has HLHS. I'm not a doctor, but it sounds like your granddaughter had a similar procedure as my son. Did she have a Fontan? My son is eight years old now -- he enjoys swimming and martial arts and is doing very well in school. He may never be a jock, but our biggest issue right now is getting his handwriting neat ;-). He gets regular checkups from the pediatric cardiologist (every 6 mos. with an annual ECHO and a holter (sp?) monitor every two years.)\n\nWe wish your granddaughter and your family the best of wishes. Let me know if you want to talk.
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There are some genetically related disorders including: \nHypochondroplasia \nFGFR-related craniosynostosis \nThanatophoric dysplasia \nSADDAN dysplasia=Severe achondroplasia
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Most of the research that has been published on Triple X Syndrome in the past year and a half focuses on case studies and medical/physiological data on patients with Triple X Syndrome, as the genetic mechansisms of the syndrome are understood to the full extent permitted by modern genetic tools and understanding.\n\nThe easiest way to find out about current research on a topic is to go to Google Scholar (http://scholar.google.com/ ) and do an advanced search (there's a little link next to the normal search button) for papers published within whatever time period you consider recent.  I have no idea what your background is, but even without a lot of technical knowledge on the subject, abstracts and review articles tend to be pretty accessable.
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Maybe, but the risk is high\n\n"Pregnancy:\n \nAs more women with Turner syndrome complete pregnancy thanks to the new modern techniques to treat infertility, it has to be noted that pregnancy may be at risk for cardiovascular complications.\n\nIndeed several studies had suggested an increased risk for aortic dissection in pregnancy (Lin et al, 1998). Three deaths have even been reported. The influence of oestrogen has been examined but remains unclear. It seems that the high risk of aortic dissection during pregnancy in women with Turner syndrome may be due to the increased hemodynamic load rather than the high oestrogen rate (Elsheikh et al, 2002).\n\nOf course these findings are important and need to be remembered while following a pregnant patient with Turner syndrome. "
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http://www.ambg.com.my/abfmy1/abfm/aboutabfmalaysia.html
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I have had this disease for over 30 years... it was a gift from my mom who has had it for 65+ years.  The only complication that i recently have is weight gain.(due to taking insulin which is a protein for so long)  This is not the worse disease to have.  When I was first diagnosed the only sugar free item was TAB soda..... so i did stand out alot being "different"\nPlease go to the doctors with your grand child and learn as much as possible.  If she eats 5 small meals a day... tests her blood 4 or more times, exercises, visits her dr. every 3 months.... she will live a long healthy life.  Make sure she stays away from splenda items... this is a sugar.  Eating right and exercising is not a curse... get the whole family to eat the diabetic diet.....and play together..... let her teach you how to test the blood...have her test your blood.. see who has the best #\nThere are support groups for parents and children..... talk to her dr about where and when..... so she won't feel so "different" \nYou are a great grand parent.  I understand your worry... the main thing is to accept her.... go out for a s/f ice cream one night and talk to her about things... but keep an eye on her blood sugar levels... that is the most important...... You will be fine....
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Try and do some research and write your essay about DI GEORGE SYNDROME and kindly mail a copy ur essay 2 me thanks.
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Basically it only takes mutation in one allele to cause Marfan's.  Why?  Because it's autosomal dominant, specifically dominant negative.  What does this mean?  It means that in the heterozygous state, you are making 1/2 normal fibrillin-1, and 1/2 mutant fibrillin-1.  However, normal fibrillin-1 and mutant fibrillin-1 are interacting, and the mutant is making even the normal fibrillin not functional.  Dominant negatives are the result of either proteins with many subunits, or even more commonly, collagen triple helix formation (a condition called osteogenesis imperfecta).  The serious problem with Marfan's is that fibrillin is not properly functioning in the aorta, and it ruptures.
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Except in very rare and extreme cases, the lifespan of a child with Gorlin Chaudhry Moss Syndrome (or Ectodermal Dysplasias) is not affected by the disease.\n\nhttp://www.nfed.org/FAQ.htm#Lifespan\n\nGeneral Discussion \n \nGorlin-Chaudhry-Moss syndrome is an extremely rare inherited disorder characterized by premature closure of the fibrous joints (sutures) between certain bones in the skull (craniosynostosis), unusually small eyes (microphthalmia), absence of some teeth (hypodontia), and/or excessive amounts of hair (hypertrichosis) on most areas of the body. Affected individuals may also exhibit a mild delay in physical development (growth retardation); short fingers and/or toes; and/or underdevelopment (hypoplasia) of the two long folds of skin on either side of the vaginal opening (labia majora) in females. In addition, there may be an abnormal opening between the two large blood vessels that carry blood away from the heart (pulmonary artery and aorta), causing inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body (patent ductus arteriosus). In some cases, mild mental retardation may also be present. It is believed that Gorlin-Chaudhry-Moss syndrome may be inherited as an autosomal recessive trait.\n\n \n\n\nhttps://www.mylifepath.com/hw/articles/hw_article.jsp;jsessionid=Q5ZMTDXI3JIGDJP3YYRCGN3F5XDCKITT?articleId=HWNORD1041&fromTopics=all_topics
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I do.  Hi, nice to meet another chiarian. How is life for you?  I have been diagnosed with ACM since 1999.
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How, why, how long, any other abnormalities, any other family members abnormal, what age....???\n\nNo one can possibly comment or reasonably respond to your question when you give no information.  \n\nYou need to spend another 5 points and really give people something to go on if you expect a helpful answer.
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Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs.\n\nMarfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.\nMarfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the symptoms progress as the person ages. The body systems most often affected by Marfan syndrome are: Skeleton, Eyes, Heart and blood vessels (cardiovascular system), Nervous system, Skin, Lungs.
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Still studying the genetic link to angelman's syndrome.  From the research I have done, and who knows how much information on the internet is correct but I believe it is a sex-linked gene.
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Hello Jen K,\n\nI am not sure if you need an overview of the syndrome or something specific.\n\nSo, here's a few, and I am hoping one of them fits your needs.\nIf none of these work, please email me through my profile,\nand I will continue to work on it!\n\n[These came from MedlinePlus [ http://www.medlineplus.gov]\n[Other links are at the site...Marfan Syndrome]\n\nNational Marfan Foundation      \n     http://www.marfan.org/nmf/index.jsp\n            Good explanation/overview, with links to support \n            services, education and awareness, and a marketplace, \n            links for professionals, clinical trials, and conferences \n            and events\n\nWhat is Marfan Syndrome\n  [US National Heart, Lung, and Blood Institute]\n  http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_whatis.html\n    Short overview including causes, who is at risk, diagnosis, treatments, living with, and links\n\nMarfan Syndrome (Mayo Clinic)\n    http://www.mayoclinic.com/health/marfan-syndrome/DS00540\n     Overview with  info on Signs and symptoms,Causes, Risk   \n    factors When to seek medical advice , Screening and \n   diagnosis, Complications , Treatment , Prevention , Self  \n   care ,Coping   skills \n\nGenetics Home Reference - Marfan Syndrome\n   http://ghr.nlm.nih.gov/condition=marfansyndrome\n   General info on genes responsible for this syndrome, and links\n    to treatment and additional info (for both health care \n   professionals and consumers)\n\n\nOther Web Directories that may contain good info on Marfan\nSyndrome\n--NetWellness     http://netwellness.org/\n    "highest quality health information and education services created and evaluated by faculty of our partner universities. "\n   Has an "Ask an expert" link \n                http://netwellness.org/healthtopics/help/aaehelp.cfm\n\n--NOAH (New York Online Access to Health)\n      http://www.noah-health.org/\n    "NOAH provides access to high quality full-text consumer health information in English and Spanish that is accurate, timely, relevant and unbiased. "  Started at the NY Public libraries\n\nAlso, not everything is on the Internet!\nDon't discount libraries for books and databases (indexes) which\nmay contain full text articles not avialble on the internet.\nYour public library may have access to databases as InfoTrac,\nAcademic Search Premier, and Health Source...just ask a reference librarian to get you started.\n\nMost (if not all) public supported academic and medical libraries\nare open to "walk ins"...Call ahead to see what resources they have. Any reputable medical librarian can get you started.\nA few databases they may subscribe to included MD Consult,\nUpToDate, Access Medicine, StatRef, Medline (with some links to full text medical articles).\n\nHoping I didn't overload you....\nand at least one of the websites above is useful.\n\nJanice\npart time medical librarian at the local medical college (affiliated with a hospital)