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Lymphedema\u2013Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in<jats:italic>FOXC2<\/jats:italic>. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894\u2009kb at 16q24.1\u2013q24.2. This report extends the phenotype of both 16q24.1\u2013q24.2 microdeletion syndrome and of LDS. Interestingly, the deletion involves only the 3\u2032\u2010UTR part of<jats:italic>FOXC2<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62730","type":"journal-article","created":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T10:38:41Z","timestamp":1647859121000},"page":"1990-1996","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Microdeletion of 16q24.1\u2013q24.2\u2014A unique etiology of Lymphedema\u2013Distichiasis syndrome and neurodevelopmental disorder"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3794-0843","authenticated-orcid":false,"given":"Marina","family":"Michelson","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics Wolfson Medical Center Holon Israel"},{"name":"The Genetic Institute of Maccabi Health Medicinal Organization Tel\u2010Aviv Israel"},{"name":"Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv 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