Prader-Willi Syndrome

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Xu, R. Prader-Willi Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5425 (accessed on 21 September 2026).

Xu R. Prader-Willi Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5425. Accessed September 21, 2026.

Xu, Rita. "Prader-Willi Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5425 (accessed September 21, 2026).

Xu, R. (2020, December 24). Prader-Willi Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5425

Xu, Rita. "Prader-Willi Syndrome." Encyclopedia. Web. 24 December, 2020.

Prader-Willi Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/prader-willi-syndrome

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

genetic conditions

References

Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogeneticsand molecular biology. Expert Rev Mol Med. 2005 Jul 25;7(14):1-20. Review.
Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009Jan;17(1):3-13. doi: 10.1038/ejhg.2008.165.
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. GenetMed. 2012 Jan;14(1):10-26. doi: 10.1038/gim.0b013e31822bead0.Review.
Chen C, Visootsak J, Dills S, Graham JM Jr. Prader-Willi syndrome: an updateand review for the primary pediatrician. Clin Pediatr (Phila). 2007Sep;46(7):580-91.
Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Prader-Willi Syndrome. 1998Oct 6 [updated 2017 Dec 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1330/
Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakerscontributors at the Second Expert Meeting of the Comprehensive Care of Patientswith PWS. Recommendations for the diagnosis and management of Prader-Willisyndrome. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. doi:10.1210/jc.2008-0649.Dec;95(12):5465.
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changingpurpose of Prader-Willi syndrome clinical diagnostic criteria and proposedrevised criteria. Pediatrics. 2001 Nov;108(5):E92.
Lee S, Wevrick R. Identification of novel imprinted transcripts in thePrader-Willi syndrome and Angelman syndrome deletion region: further evidence forregional imprinting control. Am J Hum Genet. 2000 Mar;66(3):848-58.
Oiglane-Shlik E, Zordania R, Varendi H, Antson A, Mägi ML, Tasa G, Bartsch O, Talvik T, Ounap K. The neonatal phenotype of Prader-Willi syndrome. Am J MedGenet A. 2006 Jun 1;140(11):1241-4.
Wattendorf DJ, Muenke M. Prader-Willi syndrome. Am Fam Physician. 2005 Sep1;72(5):827-30. Review.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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