What does prader–willi syndrome mean?
Definitions for prader–willi syndrome
prader–willi syn·drome
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Wikipedia
Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children.About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through imprinting, they end up with no working copies of certain genes. PWS is not generally inherited, but rather the genetic changes happen during the formation of the egg, sperm, or in early development. No risk factors are known for the disorder. Those who have one child with PWS have less than a 1% chance of the next child being affected. A similar mechanism occurs in Angelman syndrome, except the defective chromosome 15 is from the mother, or two copies are from the father.Prader–Willi syndrome has no cure. Treatment may improve outcomes, especially if carried out early. In newborns, feeding difficulties may be supported with feeding tubes. Strict food supervision is typically required, starting around the age of three, in combination with an exercise program. Growth hormone therapy also improves outcomes. Counseling and medications may help with some behavioral problems. Group homes are often necessary in adulthood.PWS affects between 1 in 10,000 to 30,000 people worldwide. The condition is named after Swiss physicians Andrea Prader and Heinrich Willi who, together with Alexis Labhart, described it in detail in 1956. An earlier description was made in 1887 by British physician John Langdon Down.
Wikidata
Prader–Willi syndrome
'Prader–Willi syndrome' is a rare, genetic disorder in which seven genes on Chromosome 15 |chromosome 15 ]] are deleted or unexpressed on the paternal chromosome. It was first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland. Characteristic of PWS is "low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity." The incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births. The maternal origin of the genetic material that is affected in the syndrome is important because the particular region of chromosome 15 involved is subject to parent of origin imprinting, meaning that for a number of genes in this region only one copy of the gene is expressed while the other is silenced through imprinting. For the genes affected in PWS, it is the maternal copy that is usually imprinted, while the mutated paternal copy is not functional. This means that while most people have a single working copy of these genes, people with PWS have a non-working copy and a silenced copy. If the maternally derived genetic material from the same region is affected instead, the sister syndrome Angelman syndrome is the result.
Numerology
Chaldean Numerology
The numerical value of prader–willi syndrome in Chaldean Numerology is: 4
Pythagorean Numerology
The numerical value of prader–willi syndrome in Pythagorean Numerology is: 6
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"prader–willi syndrome." Definitions.net. STANDS4 LLC, 2024. Web. 24 Nov. 2024. <https://www.definitions.net/definition/prader%E2%80%93willi+syndrome>.
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