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Doctor insights on: Smith Lemli Opitz Syndrome

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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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Can you tell me the basics about smith lemli opitz syndrome?

Can you tell me the basics about smith lemli opitz syndrome?

A genetic: Disorder...suggest you GOOGLE for "BASICS". you can ask specific questions here on Health Tap and a Physician with experience in this disorder will try to help you! Hope this is helpful (at this moment) Dr Z ...Read more

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What cause result from having smith magenis syndrome?

What cause result from having smith magenis syndrome?

See details: This is a developmental disorder that can cause mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems. ...Read more

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What's the Kundalini syndrome?

What's the Kundalini syndrome?

Kundalini: The kundalini syndrome has been reported in people with near-death experiences or with some types of yoga & meditation. The main sx is a feeling of energy or heat at the spine. It can also include severe headaches, sense of energy or heat in the hands, ecstasy, body tremor or vibration, sense of heat or cold moving through the body, sensing inner lights as well as other tactile experiences. ...Read more

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Can sjogen's syndrome be cured?

Can sjogen's syndrome be cured?

See below: There is no true cure for autoimmune diseases such as sjogren's---our goal is to put them into remission with medications so that you can feel better. ...Read more

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What is gillian barre syndrome?

What is gillian barre syndrome?

Autoimmune: An autoimmune disease that attacks the myelin sheaths on your peripheral nerves. Usually starts in feet an ascends. Sometimes starts in the eyes. ...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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How serious is Alstrom syndrome?

How serious is Alstrom syndrome?

Depends on Severity: In some cases there can be serious issues with liver, kidneys, bladder, & /or lungs. ...Read more

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What is dual retraction syndrome?

What is dual retraction syndrome?

Typo?: There is no such thing. Do you mean Duane's Retraction syndrome? If so, here you go: https://en. Wikipedia. Org/wiki/Duane_syndrome It's a rare congenital cause of strabismus (unable to move eye normally). If that is not what you meant, please ask your question again and clarify. ...Read more

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What is deletion syndrome 22q.11?

Highly variable: This is fairly common and quite variable clinically depending on the extent of the deletion. DiGeorge and velocardialfacial syndrome patients may have deletions here. There's a good review at http://ghr. Nlm. Nih. Gov/condition/22q112-deletion-syndrome ...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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How is Alstrom syndrome diagnosed?

How is Alstrom syndrome diagnosed?

Alstrom syndrome: Usually diagnosed clinically due to sparsity of labs that offer genetic testing for the condition. ...Read more

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Will I die from sjögren’s syndrome?

Will I die from sjögren’s syndrome?

No: Sjogren's does give you a somewhat increased risk of malignant lymphoma, and it may run with a disease like lupus or scleroderma which you'd know by now whether or not you have. By itself, sjogren's is a nuisance disease. The most dangerous feature is that maybe 1% of patients get a vasculitis that can cause brain dysfunction that mimics multiple sclerosis. Be alert as it's manageable. ...Read more

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What is turners syndrome prognosis?

What is turners syndrome prognosis?

Turner's Syndrome: The prognosis for turner's syndrome diagnosed at birth is usually good. They will be short. They have streaked gonads. They can have a webbed neck. There can be lymphedema. There can be associated perceptual problems. They are not necessarily mentally retarded. There can be coarctation of the aorta. ...Read more

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Is Tzeitse syndrome always painful?

Is Tzeitse syndrome always painful?

Likely: I am sorry you are experiencing Tietze's syndrome (aka Costochondritis with swelling). But sadly Tietze's syndrome is usually painful, and the only treatment is symptom control. I would advise you visit an Urgent Care clinic/ER when experiencing these episodes and tell the doc you have a history of Tietze's syndrome so that they can tell the difference from a Heart Attack and your condition. ...Read more

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What is the cause of edward's syndrome?

What is the cause of edward's syndrome?

Defective transfer: When eggs/sperm form they go through a process where the pairs of chromosomes split. Each resulting egg or sperm should only have one of the pair. When /if an egg or sperm fails to drop one or part of the chromosome 18, it will have excessive material once conception occurs. That extra material interferes with normal development. ...Read more

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Is there a syndrome that reverses aging?

Is there a syndrome that reverses aging?

Not aware.: Dorian gray syndrome: exists only in literature. All of the contrary, on progeria pts are children that accelerate the rate of aging and look and have the diseases of old people and die very young from diseases of the elderly. ...Read more

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What's the incidence of edward syndrome?

What's the incidence of edward syndrome?

One in 6, 000: Edwards syndrome occurs in around one in 6, 000 live births and around 80 percent of those affected are female. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders. ...Read more