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Doctor insights on: Degeorge Syndrome

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What's evans syndrome?

What's evans syndrome?

Anemia: Evans syndrome is a rare type of anemia in which the body makes antibodies that destroys white blood cells, red blood cells and platelets. ...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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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 patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...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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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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Goldenhar syndrome treatment?

Goldenhar syndrome treatment?

Birth defect: Congenital birth defect that affects the development of the ear, nose, mandible, and palate. ...Read more

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What's hughes syndrome?

What's hughes syndrome?

Autoimmune clotting: Try here: http://www.Hughes-syndrome.Org/symptoms.Htm.

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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 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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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 '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

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What's guillian barre syndrome (gbs) syndrome?

What's guillian barre syndrome (gbs) syndrome?

Auto-immune reaction: A triggered auto-immune reaction usually against the myelin of peripheral nerves. In a subset of individuals, the response is also directed at the nerve cells. This causes slowing of nerve conduction and motor weakness classically in an ascending pattern from the legs proximally. The attack may be so dramatic as to cause breathing difficulty requiring a respirator. Treatment options exist. ...Read more

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What causes Marfan syndrome?

What causes Marfan syndrome?

Genetic mutation: Marfan syndrome is caused by a gene mutation (in the fbn1 gene). A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue. ...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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Whats compartment syndrome?

Whats compartment syndrome?

CS: It is a very severe and serious condition that can result in nerve and muscle damage if not treated. It results from pressure on those tissues, often from fracture, crush injury or lack of blood flow to the tissue. ...Read more

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What causes turner syndrome?

Lack of chromosome: Normal humans have 22 pairs of regular chromosomes (chms) and one pair of sex chms .At conception you are supposed to get one of each pair from each parent. If one of the sex (X) chms is lost from the egg, the fetus (which can survive the mistake) will be born with 22 pr of regular chms and only one X.The defect occurs in the formation of the egg. The effect on the kid varies. ...Read more

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