Síndrome de Prader-Willi
Última actualización 13 de mayo de 2022
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Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterised by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an extreme hunger, 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).
Descripción
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterised by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an extreme hunger, 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).
People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioural problems are common, including temper outbursts, stubbornness, and compulsive behaviour such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).
Patrones de herencia
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Otros nombres
Prader-Labhart-Willi syndrome
PWS
Willi-Prader syndrome
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Crecimiento restringido
This is a genetic condition affecting girls only. As well as short height, there are typical physical features, and ovaries do not work normally. See the separate leaflet called Turner syndrome for more information. Prader-Willi syndrome. This is a rare genetic condition with many features including learning disability, obesity, muscle.
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Lecturas adicionales y referencias
- Síndrome de Prader-Willi; MedlinePlus, National Library of Medicine.
- Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med. 2005 Jul 25;7(14):1-20. doi: 10.1017/S1462399405009531.
- Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009 Jan;17(1):3-13. doi: 10.1038/ejhg.2008.165. Epub 2008 Sep 10.
- Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012 Jan;14(1):10-26. doi: 10.1038/gim.0b013e31822bead0. Epub 2011 Sep 26.
- Chen C, Visootsak J, Dills S, Graham JM Jr. Prader-Willi syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2007 Sep;46(7):580-91. doi: 10.1177/0009922807299314. Epub 2007 May 23.
- Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome. 1998 Oct 6 [updated 2026 Feb 19]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1330/
- Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. doi: 10.1210/jc.2008-0649. Epub 2008 Aug 12.
- Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 2001 Nov;108(5):E92. doi: 10.1542/peds.108.5.e92.
- Kocher MA, Huang FW, Le E, Good DJ. Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome. Hum Mol Genet. 2021 Jun 9;30(12):1101-1110. doi: 10.1093/hmg/ddab103.
- Lee S, Wevrick R. Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. Am J Hum Genet. 2000 Mar;66(3):848-58. doi: 10.1086/302817.
- Mendiola AJP, LaSalle JM. Epigenetics in Prader-Willi Syndrome. Front Genet. 2021 Feb 15;12:624581. doi: 10.3389/fgene.2021.624581. eCollection 2021.
- Oiglane-Shlik E, Zordania R, Varendi H, Antson A, Magi ML, Tasa G, Bartsch O, Talvik T, Ounap K. The neonatal phenotype of Prader-Willi syndrome. Am J Med Genet A. 2006 Jun 1;140(11):1241-4. doi: 10.1002/ajmg.a.31223. No abstract available.
- Shelkowitz E, Gantz MG, Ridenour TA, Scheimann AO, Strong T, Bohonowych J, Duis J. Neuropsychiatric features of Prader-Willi syndrome. Am J Med Genet A. 2022 May;188(5):1457-1463. doi: 10.1002/ajmg.a.62662. Epub 2022 Jan 30.
- Wattendorf DJ, Muenke M. Prader-Willi syndrome. Am Fam Physician. 2005 Sep 1;72(5):827-30.
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