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Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [2]
Prader–Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to contribute to the region.
It is associated with hyperthyroidism and endocrine diseases, e.g., Graves' disease, and it has also been noted in Prader–Willi syndrome and other genetic conditions caused by chromosomal anomalies. It is only one of several diagnostic criteria for bulimia and is not by itself classified as an eating disorder.
Andrea Prader (December 23, 1919 – June 3, 2001) was a Swiss scientist, physician, and pediatric endocrinologist. He co-discovered Prader–Willi syndrome and created two physiological sex development scales, the Prader scale and the orchidometer .
Urban–Rogers–Meyer syndrome, also known as Prader–Willi habitus, osteopenia, and camptodactyly or Urban syndrome, [1] is an extremely rare inherited congenital disorder first described by Urban et al. (1979).
Diagnosis and Testing: Prader–Willi syndrome (PWS) is a multi-systemic complex genetic disorder caused by lack of expression of genes in chromosome 15q11.2-q13 region that are inherited paternally (Driscoll, 2017).
The most well-known conditions include Prader–Willi syndrome and Angelman syndrome. Both of these disorders can be caused by UPD or other errors in imprinting involving genes on the long arm of chromosome 15. [6]
Angelman syndrome – 50% of cases have a segment of the long arm of chromosome 15 missing; a deletion of the maternal genes, example of imprinting disorder. Prader-Willi syndrome – 50% of cases have a segment of the long arm of chromosome 15 missing; a deletion of the paternal genes, example of imprinting disorder.