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<span>Prader-Willi syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/prader-willi-syndrome/</span>
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<h1>Prader-Willi syndrome</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>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 extreme hunger, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop <a data-pid="16841" href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">type 2 diabetes</a> (the most common form of diabetes).</p><p>People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a <a class="image-modal" data-alt="Front view photo of a child with a narrow forehead" data-caption="Note the decreased distance between the two sides of the forehead with narrowing at the temples." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001IP_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001IP" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=03f02219fe5521b4" data-title="Narrow forehead" href="https://medlineplus.gov/images/PX0001IP_PRESENTATION.jpeg" id="PX0001IP_2" title="Show image">narrow forehead<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, almond-shaped eyes, and a triangular mouth; short stature; and <a class="image-modal" data-alt="Photograph of a person's small hands." data-caption="Note that this patient also has Tapered fingers." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX00028I_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00028I" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=451aad78795592cd" data-title="Small hands" href="https://medlineplus.gov/images/PX00028I_PRESENTATION.jpeg" id="PX00028I_3" title="Show image">small hands<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and <a class="image-modal" data-alt="A photograph of a child's short feet." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0002FZ_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002FZ" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=860b87ff24a50048" data-title="Short feet" href="https://medlineplus.gov/images/PX0002FZ_PRESENTATION.jpeg" id="PX0002FZ_4" title="Show image">feet<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Some people with Prader-Willi syndrome have unusually fair skin and <a class="image-modal" data-alt="Photograph of a young child with blue eyes, pale skin, and light-colored hair." data-caption="" data-credit="Natalia_R/Shutterstock.com" data-filepath="images/PX0000RK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000RK" data-sourceurl="" data-title="Smiling girl" href="https://medlineplus.gov/images/PX0000RK_PRESENTATION.jpeg" id="PX0000RK_5" title="Show image">light-colored hair<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).</p></div>
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people worldwide.</p></div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Prader-Willi syndrome is caused by the loss of function of genes in <a class="image-modal" data-alt="Chromosome region 15q11.2-q13" data-caption="" data-credit="GeneReviews, University of Washington" data-filepath="images/PX0002VM_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002VM" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1330/figure/pws.F2/" data-title="Chromosome region 15q11.2-q13" href="https://medlineplus.gov/images/PX0002VM_PRESENTATION.jpeg" id="PX0002VM_1" title="Show image">a particular region of chromosome 15<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activity results from a process called genomic imprinting.</p><p>Most cases of Prader-Willi syndrome (about 70 percent) occur when a segment of the paternal <a data-pid="20059" href="https://medlineplus.gov/genetics/chromosome/15/">chromosome 15</a> is <a class="image-modal" data-alt="Genetic material is deleted from a chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00006K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00006K" data-sourceurl="" data-title="Chromosomal deletion" href="https://medlineplus.gov/images/PX00006K_PRESENTATION.jpeg" id="PX00006K_3" title="Show image">deleted<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in each cell. People with this chromosomal change are missing certain critical genes in this region because the genes on the paternal copy have been deleted, and the genes on the maternal copy are turned off (inactive). In another 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from his or her mother (maternal copies) instead of one copy from each parent. This situation is called maternal <a class="image-modal" data-alt="Illustration of maternal and paternal uniparental disomy, including heterodisomy and isodisomy." data-caption="Uniparental disomy results in an abnormal phenotype when the chromosomes involved are imprinted, such that the genes on these chromosomes are monoallelically active (i.e., only the maternal or paternal allele of the pair is active)." data-credit="GeneReviews, University of Washington, Seattle" data-filepath="images/PX0002KV_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002KV" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK5191/box/further_illus-217/" data-title="Uniparental disomy" href="https://medlineplus.gov/images/PX0002KV_PRESENTATION.jpeg" id="PX0002KV_4" title="Show image">uniparental disomy<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a <a class="image-modal" data-alt="Two chromosomes break and swap pieces; no genetic material is gained or lost." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00004G_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00004G" data-sourceurl="" data-title="Balanced translocation" href="https://medlineplus.gov/images/PX00004G_PRESENTATION.jpeg" id="PX00004G_5" title="Show image">translocation<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, or by a genetic alteration or other change that abnormally turns off (inactivates) genes on the paternal chromosome 15.</p><p>It appears likely that the characteristic features of Prader-Willi syndrome result from the loss of function of several genes on chromosome 15. Among these are genes that provide instructions for making molecules called small nucleolar RNAs (snoRNAs). These molecules have a variety of functions, including helping to regulate other types of RNA molecules. (RNA molecules play essential roles in producing proteins and in other cell activities.) Studies suggest that the loss of a particular group of snoRNA genes, known as the SNORD116 cluster, may play a major role in causing the signs and symptoms of Prader-Willi syndrome. However, it is unknown how a missing SNORD116 cluster could contribute to intellectual disability, behavioral problems, and the physical features of the disorder.</p><p>In some people with Prader-Willi syndrome, the loss of a gene called <em><a data-pid="17415" href="https://medlineplus.gov/genetics/gene/oca2/">OCA2</a></em> is associated with <a class="image-modal" data-alt="Photograph of a young child with blue eyes, pale skin, and light-colored hair." data-caption="" data-credit="Natalia_R/Shutterstock.com" data-filepath="images/PX0000RK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000RK" data-sourceurl="" data-title="Smiling girl" href="https://medlineplus.gov/images/PX0000RK_PRESENTATION.jpeg" id="PX0000RK_7" title="Show image">unusually fair skin and light-colored hair<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The <em>OCA2</em> gene is located on the segment of chromosome 15 that is often deleted in people with this disorder. However, loss of the <em>OCA2</em> gene does not cause the other signs and symptoms of Prader-Willi syndrome. The protein produced from this gene helps determine the coloring (pigmentation) of the skin, hair, and eyes.</p><p>Researchers are studying other genes on chromosome 15 that may also be related to the major signs and symptoms of this condition.</p></div>
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</section>
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||
<section>
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||
<div class="related-genes mp-exp exp-full">
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||
<h3>Learn more about the gene and chromosome associated with Prader-Willi syndrome</h3>
|
||
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/oca2/">OCA2</a></li>
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||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/chromosome/15/">chromosome 15</a></li>
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||
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||
</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
|
||
<h2>Inheritance</h2>
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|
||
<section><div class="mp- mp-content"><p>Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a <a class="image-modal" data-alt="Genetic material is deleted from a chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00006K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00006K" data-sourceurl="" data-title="Chromosomal deletion" href="https://medlineplus.gov/images/PX00006K_PRESENTATION.jpeg" id="PX00006K_1" title="Show image">deletion<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in the paternal chromosome 15 or by maternal <a class="image-modal" data-alt="Illustration of maternal and paternal uniparental disomy, including heterodisomy and isodisomy." data-caption="Uniparental disomy results in an abnormal phenotype when the chromosomes involved are imprinted, such that the genes on these chromosomes are monoallelically active (i.e., only the maternal or paternal allele of the pair is active)." data-credit="GeneReviews, University of Washington, Seattle" data-filepath="images/PX0002KV_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002KV" data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK5191/box/further_illus-217/" data-title="Uniparental disomy" href="https://medlineplus.gov/images/PX0002KV_PRESENTATION.jpeg" id="PX0002KV_2" title="Show image">uniparental disomy<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.</p><p>Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example, it is possible for a genetic change that abnormally turns off genes on the paternal chromosome 15 to be passed from one generation to the next.</p></div>
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</section>
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||
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||
</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>Prader-Labhart-Willi syndrome</li> <li>PWS</li> <li>Willi-Prader syndrome</li>
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||
</ul>
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</section>
|
||
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||
</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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||
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||
<section>
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||
<div class="mp-content">
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||
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||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0032897/" target="TheNewWin">Genetic Testing Registry: Prader-Willi syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
</ul>
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||
</div>
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||
</section>
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||
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||
<section>
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||
<div class="mp-content">
|
||
|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/5575/index" target="TheNewWin">Prader-Willi syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
|
||
</ul>
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||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22Prader-Willi syndrome%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/176270" target="TheNewWin">PRADER-WILLI SYNDROME; PWS</a></li>
|
||
|
||
</ul>
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||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Prader-Willi+Syndrome%5BMAJR%5D%29+AND+%28Prader-Willi+syndrome%5BTI%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+360+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
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||
|
||
</div>
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||
</section>
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||
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||
</div>
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||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
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||
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and molecular biology. Expert Rev Mol Med. 2005 Jul 25;7(14):1-20. doi:
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10.1017/S1462399405009531. <a href="https://pubmed.ncbi.nlm.nih.gov/16038620" target="TheNewWin">Citation on PubMed</a></li>
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||
<li>Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009
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Jan;17(1):3-13. doi: 10.1038/ejhg.2008.165. Epub 2008 Sep 10. <a href="https://pubmed.ncbi.nlm.nih.gov/18781185" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985966/" target="TheNewWin">Free article on PubMed Central</a></li>
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<li>Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet
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Med. 2012 Jan;14(1):10-26. doi: 10.1038/gim.0b013e31822bead0. Epub 2011 Sep 26.
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<a href="https://pubmed.ncbi.nlm.nih.gov/22237428" target="TheNewWin">Citation on PubMed</a></li>
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<li>Chen C, Visootsak J, Dills S, Graham JM Jr. Prader-Willi syndrome: an update
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<li>Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome. 1998 Oct 6 [updated
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2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A,
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<li>Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers
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syndrome. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97. doi:
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10.1210/jc.2008-0649. Epub 2008 Aug 12. Erratum In: J Clin Endocrinol Metab. 2010
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<li>Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. The changing
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<a href="https://pubmed.ncbi.nlm.nih.gov/11694676" target="TheNewWin">Citation on PubMed</a></li>
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||
<li>Kocher MA, Huang FW, Le E, Good DJ. Snord116 Post-transcriptionally Increases
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Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome. Hum Mol
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Genet. 2021 Jun 9;30(12):1101-1110. doi: 10.1093/hmg/ddab103. <a href="https://www.ncbi.nlm.nih.gov/pubmed/33856031" target="TheNewWin">Citation on PubMed</a></li>
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<li>Lee S, Wevrick R. Identification of novel imprinted transcripts in the
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10.1086/302817. <a href="https://pubmed.ncbi.nlm.nih.gov/10712201" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288168/" target="TheNewWin">Free article on PubMed Central</a></li>
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<li>Mendiola AJP, LaSalle JM. Epigenetics in Prader-Willi Syndrome. Front Genet.
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2021 Feb 15;12:624581. doi: 10.3389/fgene.2021.624581. eCollection 2021. <a href="https://www.ncbi.nlm.nih.gov/pubmed/33659026" target="TheNewWin">Citation on PubMed</a></li>
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<li>Oiglane-Shlik E, Zordania R, Varendi H, Antson A, Magi ML, Tasa G, Bartsch O,
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Talvik T, Ounap K. The neonatal phenotype of Prader-Willi syndrome. Am J Med
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Genet A. 2006 Jun 1;140(11):1241-4. doi: 10.1002/ajmg.a.31223. No abstract
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available. <a href="https://pubmed.ncbi.nlm.nih.gov/16642508" target="TheNewWin">Citation on PubMed</a></li>
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||
<li>Shelkowitz E, Gantz MG, Ridenour TA, Scheimann AO, Strong T, Bohonowych J,
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Duis J. Neuropsychiatric features of Prader-Willi syndrome. Am J Med Genet A.
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2022 May;188(5):1457-1463. doi: 10.1002/ajmg.a.62662. Epub 2022 Jan 30. <a href="https://www.ncbi.nlm.nih.gov/pubmed/35098642" target="TheNewWin">Citation on PubMed</a></li>
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||
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||
<li>Wattendorf DJ, Muenke M. Prader-Willi syndrome. Am Fam Physician. 2005 Sep
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1;72(5):827-30. <a href="https://pubmed.ncbi.nlm.nih.gov/16156341" target="TheNewWin">Citation on PubMed</a></li>
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||
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||
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||
</ul>
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