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T h e n e w e ngl a nd j o u r na l o f m e dic i n e review article Medical Progress Williams–Beuren Syndrome Barbara R. Pober, M.D. illiams–Beuren syndrome (also known as Williams’ syndrome; From the Center for Human Genetics, Online Mendelian Inheritance in Man [OMIM] number, 194050), a multi­ Massachusetts General Hospital, Boston. Wsystem disorder, is caused by deletion of the Williams–Beuren syndrome Address reprint requests to Dr. Pober at the Center for Human Genetics, Simches chromosome region, spanning 1.5 million to 1.8 million base pairs and containing Research Bldg., 185 Cambridge St., Boston, 26 to 28 genes. Exactly how gene loss leads to the characteristic phenotype of MA 02114, or at pober.barbara@mgh .harvard.edu. Williams–Beuren syndrome is unknown, but hypoexpression of gene products is likely to be involved. Estimated to occur in approximately 1 in 10,000 persons,1 This article (10.1056/NEJMra0903074) was Williams–Beuren syndrome is a microdeletion disorder, or contiguous­gene­deletion updated on June 2, 2010, at NEJM.org. disorder, that can serve as a model for the study of genotype–phenotype correlations N Engl J Med 2010;362:239-52. and potentially reveal genes contributing to diabetes, hypertension, and anxiety. Copyright © 2010 Massachusetts Medical Society. The first cases of Williams–Beuren syndrome were described a