Doctor insights on:
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
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
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
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 moreSee 1 more doctor answer
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
Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?
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
How accurate is genetic testing for Marfan syndrome? If child has some features, is it worth testing? Docs check his heart & scoliosis. Is that enough
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
Is it possible to have extra stretchy skin without having some serious underlying condition like Ehlers-Danlos syndrome or Marfan Syndrome?
Have pectus carinatum, skin hyperelasticity and hypermobile thumbs. Normal ECHO in 2014 and 2016. Can you have those traits without EDS/Marfan?
Possible yes but-: -U should be tested 4 Marfan's. There R various degrees, & grade I is what U describe. ...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 moreSee 1 more doctor answer
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
Marfan syndrome: Musculoskeletal anomalies like scoliosis (curvature of spine) long arms in proportion to height, protrusion of sternum, cardiovascular abnormalities like mitral valve prolapse or dilated aorta, dislocation of the lens of the eye. A medical geneticist or a general internist can generally make diagnosis and provide management. Thanks for trusting HealthTap! ...Read more
PossibleI: While anything is possible, it's doubtful.Get a more detailed answer ›
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