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WDSTS is characterized by a distinctive facial phenotype, hypertrichosis, short stature, developmental delay, intellectual disability, congenital malformations, and skeletal anomalies. Recently, a few patients have been reported having abnormal skeletal development of the cervical spine. Here we describe 11 such individuals, all with <jats:italic>KMT2A<\/jats:italic> de novo loss\u2010of\u2010function variants: 10 showed craniovertebral junction anomalies, while an 11th patient had a cervical abnormality in C7. By evaluating clinical and diagnostic imaging data we characterized these anomalies, which consist primarily of fused cervical vertebrae, C1 and C2 abnormalities, small foramen magnum and Chiari malformation type I. Craniovertebral anomalies in WDSTS patients have been largely disregarded so far, but the increasing number of reports suggests that they may be an intrinsic feature of this syndrome. Specific investigation strategies should be considered for early identification and prevention of craniovertebral junction complications in WDSTS patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.61859","type":"journal-article","created":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T05:23:42Z","timestamp":1602480222000},"page":"2877-2886","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Expanding the phenotype of <scp>Wiedemann\u2010Steiner<\/scp> syndrome: Craniovertebral junction anomalies"],"prefix":"10.1002","volume":"182","author":[{"given":"Sara","family":"Giangiobbe","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Mother and Child Health Department Azienda USL\u2010IRCCS di Reggio Emilia  Reggio Emilia Italy"},{"name":"Medical Genetics Unit San Raffaele Hospital  Milan 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