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Doctor insights on: Syndrome Disease

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Menkes disease symptoms?

Menkes disease symptoms?

Many symptoms: Menkes disease also called menkes syndrome, copper transport disease (decreased copper), kinky hair disease. It is x linked recessive more common in males with growth failure, & deterioration of the nervous system, seizures, failure to thrive & subnormal body temperature.Arteries in the brain can also be coiled with infarcts and hemorrhages. Bones demineralized with fractues.Early death pneumonia. ...Read more

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Is Marfan syndrome preventable?

Is Marfan syndrome preventable?

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

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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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Can celiac disease cause irritable bowel syndrome?

Can celiac disease cause irritable bowel syndrome?

Not likely: Celiacs occurs because of an allergic reaction to gluten. This reaction destroys the cells in your small intestine that absorb nutrients from your food. Ibs occurs when your digestive tract is not moving food along the way it should, giving you diarrhea, constipation or both. Celiacs may seem like ibs because they have similar symptoms. But one does not cause the other. ...Read more

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...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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Is WPW syndrome a genetic disease?

Is WPW syndrome a genetic disease?

Yes: While WPW syndrome is genetic, not every patient behaves or is treated the same way. A good percentage of the WPW population will not need any treatment as they do not have fast heart rates (arrhythmias). At the other end of the spectrum however, live patients with WPW who may need ablation or possibly an icd. The proper course of action is determined by an electrophysiologist usually. ...Read more

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Why is cushing's disease or syndrome fatal?

Why is cushing's disease or syndrome fatal?

Excess cortisol: Cushing's disease is excessive cortisol in the body from a pituitary tumor that leads to its secretion.Cushing's syndrome refers to the stigmata with excessive cortisol.This can be from the pituitary or administered by drs. Symptoms include hypertension, obesity, heart problems, sensitivity to infection. Cushing's disease/syndrome can be treated so it is not necessarily fatal, but it can be. ...Read more

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Is paraneoplastic syndrome genetic?

Is paraneoplastic syndrome genetic?

No: There is no genetic relationship to the development of a paraneoplastic syndrome. ...Read more

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Can irritable bowel syndrome be associated with Crohn's disease

Can irritable bowel syndrome be associated with Crohn's disease

Yes: Remember , IBS is a syndrome that is characterized by symptoms, although there are some anatomical changes in these patients colons that have been identified. There is not a causative relationship between these two disorders. A person with undiagnosed chron's may have symptoms identical to ibs. Likewise, a person with IBS could also develop chron's. ...Read more

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Is gilberts disease inherited?

Is gilberts disease inherited?

It is ...: Gilbert's is the most common hereditary liver disease. ...Read more

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Is WPW syndrome heart disease?

Is WPW syndrome  heart disease?

Yes: Wolff parkinson white syndrome involves abnormal electrical behavior of the heart producing spasms of palpitations and rapid heart rhythms. The cause is an abnormal electrical structure of the heart which is present at birth. ...Read more

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Is behcet's syndrome curable?

Is behcet's syndrome curable?

Treatable: This is an autoimmune, largely vasculitis of the lining of the mouth, GI tract, eyes and genitalia which causes ulceration, inflammation and debility including blindness. It can be contained in many cases but no cure is know nor is the actual cause known. Your rheumatologist can best handle this with assist from an ophthalmologist and GI specialist. ...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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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 disease would cause nephrotic syndrome?

What disease would cause nephrotic syndrome?

Proper medication: Minimal change (or nil) disease. Correctly diagnosed by biopsy but frequently diagnosed by the symptoms of proteinuria, edema and intact renal function with a bland urine sediment. This responds to steroid therapy most of the time. The presence of blood in the urine, or failure to respond to steroids indicates need for biopsy of kidney with therapy based on those results. Case needs nephrologist. ...Read more