Doctor insights on:
Can People With Marfan Syndrome Still Fly On Planes
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
Can you still have Marfan syndrome without haveing long limbs? I have all the other symptoms and my doctor thinks it's a possibility.
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 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
Non-strenguous: 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
Rarely: Occasionally, a person with Marfan syndrome will have normal height, but the majority of people with Marfan syndrome tall. Even if people with Marfan syndrome who have normal height, there long bones tend to be longer than typical, resulting in longer than typical arms, legs, and fingers. ...Read more
Do people with Marfan Syndrome ever stop growing in height and if so is it about the same time others without the disease stop growing?
Not necessarily.: Joint popping and joint pain may be present, but Marfan is different in almost every patient. ...Read more
Visual disabilities: Marfan syndrome patients, if severe, can have disabilities involving vision, such as reading. Patients can have dislocated lens in the eyes (lens are out of position and cannot focus properly), retinal detachments (retina comes off the inside surface of the eyeballs), early cataracts (lens become cloudy), or early glaucoma (excess pressure inside the eyeballs). ...Read more
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
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