Doctor insights on:
Is Marfan Syndrome Recessive Or Dominant
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 more
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 more
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
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
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 more
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 more
See a geneticist: There are many options for genetic testing for Marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help. ...Read more
Marfans syndrome: Inherited disorder of connective tissue but can be sporadic. Usually dx in adolescence. Affects: Skin, bone (teeth, spine), eyes (lens dislocation), nervous and cardiovascular system (aorta, associated with mitral valve prolapse). Features: Tall, thin, long arms & legs, fingers. ...Read more
Varies by severity: People with mild Marfan syndrome symptoms probably live a pretty normal lifespan. Those with severe symptoms can die from heart valve problems, rupture of the aorta, tension pneumothorax, etc..., before they reach old age. Of course, those with moderate symptoms will have a lifespan in between. ...Read more
Doctors can evaluate: A person who may have Marfan syndrome should see his doctor and a geneticist to confirm the diagnosis. If confirmed, he can get more information from the national Marfan foundation website. He should also see specialists, such as a cardiologist to check the heart and aorta, an ophthalmologist to check the eyes, etc... He can notify his relatives to check their aortas, etc... ...Read more
Over-exertion is bad: Marfan syndrome persons should avoid contact sports. If symptoms are on the moderate to severe side, they can participate in non-contact, non-strenguous activities such as golf, bowling, walking, yoga, or tai-chi. If mild to moderate in severity, they can try non-contact, moderately strenguous activities such as biking or swimming. The national Marfan foundation website is helpful. ...Read more
Not Necessarily: But it is possible. A visit to the doctor with that question in mind should provide the answer. ...Read more
Usually yes: A Marfan syndrome person with a current or recent pneumothorax (collapsed lung) should not fly (unless the airplane stays close to his airport's altitude) because the decrease in outside air pressure as the airplane ascends can allow his pneumothorax to enlarge and compress the lungs and heart. ...Read more
Marfans: A karyotype of someone with Marfan's Syndrome would look no different than a normal karyotype. That is because Marfan's is caused by as little as one mutation to one gene (fibrillin-1), and this mutation would not be visible in a karyotype. It is a dominant trait and if one parent is affected, it may be passed to their child. ...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
It is a broad topic. Difficult to cover here. Please refer to the site:
http://en. Wikipedia. Org/wiki/marfan_syndrome. ...Read more
PossibleI: While anything is possible, it's doubtful.Get a more detailed answer ›
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