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Doctor insights on: Marfan Syndrome Genetics Birth Defects

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Could i detect Marfan syndrome before or after birth?

Could i detect Marfan syndrome before or after birth?

Yes, prenatally: Prenatal diagnosis of Marfan syndrome is possible through DNA testing of fetal tissue obtained by chorionic villi sampling or amniocentesis. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Yes: An embryo could be tested for the marfan mutation and only implanted if it did not contain that mutation. The same is true for a large number of other autosomal dominant or recessive diseases. ...Read more

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Marfan syndrome is a hereditary defect in elastin fibers, what is this?

Marfan syndrome is a hereditary defect in elastin fibers, what is this?

Histology: We are made of muscle, nerve, epithelium and connective tissue - only 4 tissue types! connective tissue is made up of various components. One of them is elastin. In marfans, these are abnormal leading to tissues that are not as strong as they should be leading to weakness in the wall of the aorta and eye (holding the lens) in particular. The syndrome has many other features you can read about. ...Read more

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Do you who has Marfan syndrome also expierence jumping of the eye(s)/like a shiny silver flashing thing in the corners of your eyes?

Do you who has Marfan syndrome also expierence jumping of the eye(s)/like a shiny silver flashing thing in the corners of your eyes?

Maybe: In marfan syndrome, it is possible to have ocular manifestations. The most classic associated eye finding in marfan syndrome is lens dislocation. This can cause visual disturbances. It is important that everyone with marfan syndrome be examined by an ophthalmologist on a regular basis (annual). Retinal detachment also occurs in patients with marfan syndrome. ...Read more

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Does being very tall mean you have Marfan syndrome?

Does being very tall mean you have Marfan syndrome?

Not Necessarily: But it is possible. A visit to the doctor with that question in mind should provide the answer. ...Read more

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At what age can you tell a child has Marfan syndrome?

At what age can you tell a child has Marfan syndrome?

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

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Can you tell me the features of the disorder Marfan syndrome?

Marfan's syndrome: It is a broad topic. Difficult to cover here. Please refer to the site: http://en.Wikipedia.Org/wiki/marfan_syndrome. ...Read more

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Could you tell me what are common symptoms of Marfan syndrome?

Could you tell me what are common symptoms of Marfan syndrome?

Quite varied...: Marfan syndrome is an inherited disorder that affects connective tissue. Symptoms can include: tall and slender build; disproportionately long arms, legs, fingers and toes; a breastbone that protrudes outward or dips inward; a high, arched palate and crowded teeth; heart murmurs; extreme nearsightedness; an abnormally curved spine; or flat feet. ...Read more

Dr. Nikolaos Zacharias
833 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more


Dr. Scott McLean
334 doctors shared insights

Marfan Syndrome (Definition)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length ...Read more