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Doctor insights on: Is There Genetic Link Between Marfan And Cutis Marmorata

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Is there genetic link between Marfan and cutis marmorata?

Is there  genetic link between Marfan and cutis marmorata?

Genetic link?: I found no specific references to a genetic link between marfan & cutis marmorata other than possibly in a rare form of homo-cystenuria "arising due to cystathionine beta-synthase deficiency, an autosomal recessive disorder that produces increased urinary homocysteine and methionine. (continued in comment—>. ...Read more

Dr. Scott McLean
327 doctors shared insights

Marfan Syndrome (Definition)

Marfan's syndrome is a genetic disorder caused by defects in a protein called fibrillin that, along with collagen, provides most of the structural support of our tissues. Individuals with Marfan's are often tall, lanky, have long arm spans, and are hyperflexible. The most serious complication of Marfan's is caused by defects in the wall of the aorta, the large blood vessel that leaves the heart and supplies the ...Read more


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In relation to genetic conditions what is eds? Marfans?

In relation to genetic conditions what is eds? Marfans?

See below:: Ehlers–danlos syndrome (eds) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (type i or iii). Marfan's syndrome is a genetic disorder of the connective tissue. People with marfan's tend to be unusually tall, with long limbs and long, thin fingers. It is caused by defects in a gene called fibrillin-1. ...Read more

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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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Are there genetic variations of marfans? I ask because i think my father may have had it and I have connective tissue disease.

Are there genetic variations of marfans? I ask because i think my father may have had it and I have connective tissue disease.

Marfan is collection: The marfan syndrome is actually a collection of more than 100 mutations of a specific gene on chromosome 15.About 15-30% are thought to represent a new mutation within the affected gene, all that are passed as an autosomal dominant disorder in successive generations.(50% risk of transmission with any conception).Variation among different forms are known, but blood lines show similarity of expression. ...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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Which kinds of genetic mutations cause long bones to not close & growing to not stop? Do adults w/ Marfans keep growing taller, even for 3-4 decades?

Marfan's do stop--: -growth, but the main problems R soft tissue incompetence such as ligamentous structures, also dislocated lenses in the eyes, as well as valvular complications in the heart. People who keep growing usually have a pituitary adenoma, or thyroid abnormalities, pituitary giants, or acromegaly. ...Read more

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I have 4 granddaughters, by the same parents.One has cutis marmorato and the other has marfans. What if any, is the correlation?

I don't know: Cutis marmorata is a type of skin mottling that can occur on its own or be part of more than a dozen genetic syndromes. Marfan syndrome (http://www.Marfan.Org/marfan/) is not one of these. The most common skin change in marfan syndrome is stretch marks. These two conditions may have occured in these sisters entirely independently. Their doctors should be sure to confirm each diagnosis. ...Read more

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Common symptoms of Marfan's syndrome?

Marfan Syndrome: There is significant variability in how marfan syndrome presents in people. Possibly symptoms include: tall height; long arms, legs, fingers & toes, heart murmur, curved spine, flat feet, nearsightedness & deformity of the breast bone. ...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