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Prader-Willi Syndrome is a genetic disorder that causes 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 In 1956 when the medical world first learned about Prader-Willi syndrome doctors had no idea what caused people to have this collection of features and problems that we now know as PWS It is only in the last 20 years that researchers have discovered the genetic changes that are responsible for the syndrome PWS is attributed to a spontaneous genetic error that occurs at or near time of conception for unknown reasons The incidence of this syndrome is 110000- 125000 live births Occurring in both sexes and all races Although considered a rare disorder Prader-Willi Syndrome is one of the most common conditions seen in genetic clinics and is the most common genetic cause of obesity that has been identified The occurrence of PWS is due to the lack of several genes on one of an individuals two chromosome 15s the one normally contributed by the father In the majority of the cases there is a deletion of chromosome 15 the critical genes are somehow lost from the chromosome Deletion happens for no known reason and it is not likely to happen in another pregnancy PWS is not usually an inherited condition it just happens Clinical features begin during the gestational period 1 Reduced fetal activity 76 2 Nonterm delivery 41 and 3 Breech presentation 26 During infancy Gross motor developmental delay 98 infantile decreased muscle tone 94 feeding difficulties with or without failure to thrive 93 and low birth weight 30 present themselves Neurological manifestations may include mental retardation 97 skin picking 79 personality problems 41 and seizures 20 Endocrine manifestations can include undersized genitals with an abnormal decrease in the function of the ovaries and the testes causing retardation of growth and sexual development
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