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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.
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).
DiGeorge syndrome or velocardiofacial syndrome [3] – most common microdeletion syndrome; Prader–Willi syndrome [4] [5] Angelman syndrome [4] Neurofibromatosis type I [6] Neurofibromatosis type II [7] [8] Williams syndrome [9] Miller–Dieker syndrome [10] Smith–Magenis syndrome [11] Rubinstein–Taybi syndrome [12] Wolf–Hirschhorn ...
Heinrich Willi (4 March 1900 – 16 February 1971) was a Swiss pediatrician who specialised in neonatology and co-discovered Prader–Willi syndrome with Andrea Prader. Biography [ edit ]
Hypothalamic obesity (abbreviated HO or HyOb) is a rare condition that can be congenital or acquired. Congenital causes include Prader-Willi syndrome and mutations of LEP (leptin gene), LEPR, POMC, MC4R, and CART.
The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and Angelman syndrome. Both syndromes are associated with loss of the chromosomal region 15q11-13 (band 11 of the long arm of chromosome 15).
The sister syndrome Prader-Willi syndrome (PWS) can result if the father's copy of the chromosomal region 15q11-13 is deleted. [2] The smallest observed region that can result in these syndromes when deleted is therefore called the PWS/AS critical region .