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Doctor insights on: Irlen Syndrome

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What is bardet biedl syndrome?

What is bardet biedl syndrome?

Wow: I have to think back to medical school- best to review with a pediatrician- it is a syndrome that has many characteristic, which can have degrees of severity and may or may not exist among those affected- in other words, not all affected are necessarily alike-: it is genetic, obesity, mental deficiencies, blindness, problems with kidney function, problems with gonads, extra fingers, diabetes, wea. ...Read more

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...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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Is munchausen syndrome herreitery?

Possibly: There may be some hereditary predisposition. Munchausen syndrome was reported in two brothers, two twins and couple families. ...Read more

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What is steven johnson syndrome?

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 klippel trenaunay syndrome?

What is klippel trenaunay syndrome?

Let me explain: Klippel–trénaunay syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. ...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's turner syndrome?

What's turner syndrome?

45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss.The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood. ...Read more

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I have crusty eyes. What's parinaud's syndrome vs parinaud oculoglandular syndrome?

I have crusty eyes. What's parinaud's syndrome vs parinaud oculoglandular syndrome?

Eye vs brain problem: Crusty eyes is usually infection or allergy. Parinsud syndrome is associated with infection and a swollen gland. Parinauds disease is a pupil problem that originates from the brain. ...Read more

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Could anybody get klippel trenaunay syndrome?

Could anybody get klippel trenaunay syndrome?

Yes: This syndrome presents with a port-wine skin blemish, overgrowth of a bone, often in one leg, and vein abnormalities, usually in leg veins and often varicose veins. It can occur in anybody, women more often, and there has yet to be a genetic pattern identified. ...Read more

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What is Parsonage-Turner syndrome?

What is Parsonage-Turner syndrome?

I looked it up: This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness[Those who suffer from Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied.. This is from Wikipedia - I had never heard of it ...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 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 elhers dansol syndrome?

What is elhers dansol syndrome?

Ehlers Danlos: The ehlers danlos syndrome is a genetic variation in the structure of connective tissue (of the collagen molecule), which causes hyperflexibility of joints, loose/stretchy skin, and internal problems that can be quite serious. It has multiple forms, some having more common serious internal problems, such as tendency to rupture the aorta. ...Read more

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What is may-turner syndrome?

What is may-turner syndrome?

Compressed iliac vei: May- thurner syndrome classically refer to a compression of the left common iliac vein by the iliac artery . This result in left leg pain, swelling and deep vein thrombosis. It has now been expanded and is now called non thrombotic iliac vein lesions (nivl), to include both the right and left iliac veins.). ...Read more

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Did helen keller have usher syndrome?

Did helen keller have usher syndrome?

No: She lost her hearing and eyesight from an acute illness as a child. ...Read more

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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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What is 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

What is 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

Disembarkment: Is a rare condition occurring after a motion event such as flying. Causes feelings of swaying or rocking, imbalance, fatigue & low concentration (brain fog), headaches, dizziness. Symptoms worsen by stress or lack of sleep or loud noises. Cause unknown. Some benefit from Benzodiazepines & Repetitive Transcranial Magnetic Stimulation. ...Read more