Doctor insights on:
Marfan S Syndrome And Autism
ASD are a spectrum of disorders of varying degrees that are characterized by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. Autism statistics from the U.S. Centers for Disease Control and Prevention (CDC) identify around 1 in 68 American children as ...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
Sometimes: Marfan syndrome is preventable when the adults who know they have Marfan syndrome thoughtfully choose not to have biological children (50% of their children would have the disease). Some cases are not preventable, such as the 20-30% of Marfan syndrome persons who have the disease from a new mutation (neither parent had a mutation). ...Read more
Stature and heart: Marfans people are tall, skinny, with valve problems, joint instability, but also have aortic problems. Ehlers danlos has hypermobility, subluxations, but also certain types of eds have tissue fragility, spontaneous pneumothorax, joint subluxation, and has difficulty healing. ...Read more
No,: Marfan's is diagnosed using major and minor criteria: major (enlarged aorta/ tear, dislocation of lens of the eye, specific skeletal abnormalities, dural ectasia. Minor (myopia, stretch marks, loose joints, arched palate, long thin face) if family history is positive, you need to have 1 major and one minor criteria. If no family history you need 2 major and 1 minor criteria/ different parts /body. ...Read more
Scolosis: While marfan's can be a part of scolosis they are not at all commonly related. There is much more scolosis without marfan's than there is with it. ...Read more
There are two chronic issues in Marfan's from the cardiovascular point of view.
1. Ascending aortic dilatation.
2. Mitral valve disease.
By reducing heart rate and blood pressure, Atenolol reduces shear stress in the ascending aortic, reducing the rate of dilatation.
By reducing blood pressure, the mitral valve will be less incompetent.
Take the med. See your doctor regularly. ...Read more
Slow ; Steady wins:
The race. Eat healthy foods
that are high in calories. Eat 6 meals /day. Work on strength training to build large muscle groups. Work out w heavier weights w fewer repetitions. Sleep at least 8 to 9 hrs/night. Hydrate well w water. Foods to help w healthy weight gain: almonds, cashews, pecans, sunflower seeds, flax seeds, walnuts, hummus, avocadoes, granola, trail mix, dried fruits, extra virgin. ...Read more
For the heart...: From a cardiologist's perspective, we want to make sure that the aorta is not too enlarged and that the blood pressure is well controlled. Classically we use a beta blocker to reduce wear and tear on the aorta, but newer trials are ongoing to see if a class of medicines known as ACE-inhibitors are helpful for this. There are important eye and ligament things to keep track of as well. ...Read more
Some similarities: Ehler-danlos syndrome is a group of disorders, caused by a different mutation than the one that causes Marfan syndrome. Some types of ehler-danlos syndrome also have rupture of the aorta as a potential problem. Ehler-danlos patients can have some skeletal features similar to those of Marfan patients. ...Read more
See below: National Marfan foundation web-site has valuable information. ...Read more
Not that I kno of.:
Tall, that's why tall girls who may get scholarship 2 play buckets R tested 4 Marfans. There R many complications if U have Marfans, & play sports.
From heart 2 eyes & more. ...Read more
Marfan: A good FPor Internist can diagnose Marfan's. A cardiologist should be able to recognize the syndrome and also other specialists ...Read more
Yes: Normal people sometimes have a chestwall deformities. One should not worry about Marfan syndrome unless one has several of the physical appearance features (then a doctor's evaluation should be obtained). Having just one of the physical appearance features in an otherwise normal individual does not necessarily suggest Marfan syndrome or any other problem. ...Read more
Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?
Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc), cardiovascular (dilated aortic root, valve trouble etc.), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck. ...Read more
Is it possible for someone with mild Marfan syndrome and perfect eyesight with no dislocated lens be a pilot?
Yes: A person with marfan's would need to meet the same standards as anyone else. The diagnosis of marfan's syndrome would not automatically disqualify a person. ...Read more
Please explain if it is possible to only have the physical conditions of Marfan syndrome and if so how can I get rid of it?
In your genes: Marfan syndrome is caused by a mutation in in the gene that codes for fibrillin-1. You cannot change your genes. Abnormal or deficient fibrillin production affects the structure of your eyes, heart, blood vessels, and bones and ligaments. The severity of effects in different individuals is highly variable. ...Read more
How do you tell the difference between someone with Marfan syndrome and someone who's just skinny and tall for example someone who's 5, 8" and weigh 108?
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
A neurodevelopmental disorder affecting three areas: abnormal socialization, communication, and restricted interests with repetitive patterns of behavior. It is usually detected in the first two years of life. Cause is unknown but strong evidence points to an interplay between ...Read more
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