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Doctor insights on: Gilbert's Syndrome Emedicine

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What is gilberts syndrome?

What is gilberts syndrome?

High bilirubin: Gilbert's non-disease affects a few percent of folks. The liver doesn't process bilirubin quite so well as other folks, and the serum bilirubin runs high. It increases more if you miss a few meals. It's nothing to worry about. ...Read more

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IS GILBERT SYNDROME HARMFUL?

IS GILBERT SYNDROME HARMFUL?

No: The worst that will happen to you is mild jaundice, which will occur periodically. it may decrease your risk of heart disease though. Overall, it might be a good thing. Hope that helps. ...Read more

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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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Help docs, is goldenhar syndrome alike to down syndrome?

Help docs, is goldenhar syndrome alike to down syndrome?

No: Down's Syndrome is caused by a translocation of the 21st chromosome. The cause of Goldenhar syndrome is not exactly clear. Totally unrelated syndromes. ...Read more

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What is steven-johnson syndrome?

What is steven-johnson syndrome?

Drug reaction: One of the most severe and life-threatening forms of drug reactions. Patients peel off their skin and may need to be treated in the burn unit. ...Read more

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Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Crouzonodermoskeleta: Crouzonodermoskeletal syndrome involves premature joining skull bones & acanthosis nigricans. Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DES enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more

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What is stephen johnsons syndrome?

What is stephen johnsons syndrome?

SJS: A very serious skin reaction with very high morbidity and poor prognosis. Drugs are the most common cause, but viral infections (including hiv) have also been implicated. If there is even the slightest concern for sjs, you need to seek immediate dermatologic evaluation as this is a medical emergency. This is in the same family as erythema multiforme and toxic epidermal necrolysis. ...Read more

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What is cowden syndrome?

What is cowden syndrome?

Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more

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What is steven johnson syndrome?

SJS: Stevens-johnson syndrome is a rare, serious disorder in which your skin and mucous membranes react severely to a medication or infection. Often, stevens-johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of your skin to die and shed. ...Read more

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What is XYY syndrome or disease?

What is XYY syndrome or disease?

Extra Y chromosome: About one man in 1000 has an extra Y chromosome and it's likely to be discovered only if there's some investigation because of some problem such as autism. This has given rise to the myth that autism, criminal behavior and so forth are more common in such men. They average taller and tend to get worse acne. The "criminal" claims haven't held up to real science. ...Read more

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What is smith lemli opitz syndrome?

What is smith lemli opitz syndrome?

Inherited Condition: 1 / 20, 000- 60, 000 newborns are born w/ this condition which can cause malformations of heart, lungs, kidneys, gut & genitalia. Affected babies often have small head size, fused second & third toes &sometimes extra fingers and toes. There can be learning and behavior problems from mild to approaching autism in severity. Infants may grow more slowly, have weaker muscle tone, & have feeding issues. ...Read more

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What is stevens-johnson syndrome?

See details: This is a very rare but very serious and even life threatening disorder of the skin and mucous membranes. It is usually a reaction to a medication or an infection. It usually begins with flu-like symptoms followed by a painful rash in which the top layer of the skin dies and sheds. It is an extreme emergency and requires immediate hospitalization. ...Read more

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Is Marfan syndrome a sex-linked disease?

Is Marfan syndrome a sex-linked disease?

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl. ...Read more

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What is goodpasture's syndrome?

What is goodpasture's syndrome?

Goodpasture's Dz: Goodpasture’s syndrome is an autoimmune disease which attacks the lungs and kidneys. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

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What is some information about apert syndrome disease?

What is  some information about apert syndrome disease?

Genetic disease: Apert's syndrome is a rare genetic disorder caused by a gene mutation. Skull & facial bones r effected & often require extensive cranial facial surgery. Hearing loss, odd fingers/toes, skin problems occur often. Apnea & sinus/ear infections r chronic problems. See nih site for more information. http://ghr.nlm.nih.gov/condition/apert-syndrome. ...Read more

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Is down's syndrome a recessive condition?

Is down's syndrome a recessive condition?

No: Down syndrome is not a recessive condition. It is caused by an extra chromosome #21. We normally have a pair (=two copies) of each chromosomes #1-22. Individuals with down syndrome have a third chromosome #21. Thus name "trisomy 21" as well. Here more about mechanism and heritability of down syndrome if you are interested: http://ghr.Nlm.Nih.Gov/condition/down-syndrome. ...Read more

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What is gilbert's syndrome & acne?

What is gilbert's syndrome & acne?

Unrelated: Maybe 4% of people have gilbert's, a mild treatment-worse-than-the-disease kink in bilirubin metabolism that's usually just a glitch on a lab report; you can confirm it (if you think it's worthwhile) by going hungry for a day or two -- gilbert's folks get a little jaundiced. It's unrelated to your acne -- today all acne is treatable with prescription medications. Glad you're proactive, good luck. ...Read more

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Dubin johnson syndrome: what are the symptoms?

Dubin johnson syndrome: what are the symptoms?

None: There are increased levels of liver enzymes, the ast and alt but generally no symptoms and no treatment needed. ...Read more