Males are affected with Bassen-Kornzweig syndrome with greater frequency (70%) than girls, which is uncharacteristic in most autosomal recessive conditions.
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Bassen-Kornzweig syndrome is inherited as an autosomal recessive disorder, which means that parents of affected individuals are themselves unaffected carriers, and that they have a 25% risk of having an affected child.
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Due to the inability to digest dietary fats, the diet of persons with Bassen-Kornzweig syndrome should contain no more than five ounces of lean meat, fish, or chicken per day.
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Treatment is based solely on monitoring the diet and treating symptoms as well as any biochemical abnormalities that might develop. Currently, there is no cure.
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Bassen-Kornzweig syndrome, also known as abetalipoproteinemia, is a rare inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. It is caused by mutations in the microsomal triglyceride transfer protein (MTP) gene. Symptoms include fatty, foul-smelling stools, failure to thrive, poor growth, and neurological complications due to vitamin deficiencies. Treatment involves a specialized diet with vitamin supplements.
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The initial observations that leads a physician to suspect a fat digestion problem is that affected babies have severe stomach problems with a high level of fats detected in the stool; the stool is often pale and foul smelling.
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The cast of Sirenesang i vildnisset - 1994 includes: Peder Bille as Bassen Gry Kjems as Bissen
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The cast of Villains - 2014 includes: Carly Bassen as Gazelle Bundchen Matthew Ryan Hunter as Rhett Bomber
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I think you mean Hank Bassen, the Canadian ice hockey goaltender. (There is no such famous person known as Hank Basset) No, Hank Bassen did not die of a heart attack. He died of heart failure on May 29, 2009. Heart failure is when the heart fails to pump enough blood to the person's entire body. Heart attack is when blood stops pumping completelydue to a block in one or more arteries.
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Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
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Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
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XXXY Syndrome and Barr-Shaver-Carr Syndrome are the same.
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Cushing's Syndrome
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Disorders, such as Down's Syndrome, are caused by nondisjunction.
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Angelman syndrome is a genetic disorder, as is Down syndrome. But they are not the same.
Angelman Syndrome involves a deletion of Chromosome 15, whereas people with Down syndrome have an extra copy of Chromosome 21.
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also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome
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if you were born and your mother or father had William syndrome, you can inherit the syndrome or disease.
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The phrase "occupational hazardous syndrome" or "occupational hazard syndrome" has no meaning.
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No, Klinefelter syndrome and Turner syndrome are the result of nondisjunction of sex chromosomes. Klinefelter syndrome is caused by an extra X chromosome (XXY), while Turner syndrome is due to a missing X chromosome (XO).
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Could be:
Sick Building Syndrome
Short Bowel Syndrome
Shaken Baby Syndrome
Straight Back Syndrome
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Down syndrome is generally the preferred spelling, although Down's syndrome is sometimes used in American sources.
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With capitalization, the correct spelling is
Asperger's Syndrome or simply Asperger Syndrome.
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Most cases of down syndrome are not inherited. Translocation Down syndrome can be inherited.
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The answer is D. Jacobs Syndrome
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Tourette syndrome is also called Gilles de la Tourette Syndrome
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Yes. There are people who have both Tourette's syndrome and Asperger's Syndrome. Depending on the severity of each, sometimes Tourette's syndrome will be diagnosed before Asperger's Syndrome.
Both conditions have echolalia as a possible symptom, so if it is diagnosed as an element of Tourette's syndrome, it might not be considered as a symptom of another condition, which could delay diagnosis of Asperger's Syndrome. However, Asperger's Syndrome is diagnosed based on a number of symptoms, so a diagnosis of Tourette's syndrome would probably mask only a mild case of Asperger's Syndrome.
Before Asperger's Syndrome became a recognized condition, it was diagnosed as other conditions. It is possible that one of those misdiagnoses could have been Tourette's syndrome.
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DiGeorge syndrome (also called 22q11 deletion syndrome, congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome)
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Down syndrome is caused by an extra or part of an extra 21st chromosome while Turner syndrome is caused by an absence in one or part of the sex(X) chromosome.
Down syndrome can occur in both male and femalewhile Turner syndrome only occurs in female.
People with Down syndrome tend to have a lower than average cognitive ability.
Both Down syndrome and Turner syndrome are at higher risk for having medical conditions such as heart problems.
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A syndrome is a combination of signs and symptoms that indicate a disease or disorder. Here are some sentences.
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No. Down is caused by an extra chromosome while Marfan is due to a mutation in one or more genes.
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