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SOX18 plays a key role in angio\u2010 and lymphangiogenesis due to its expression in venous endothelial cells from which the lymphatic system develops. It is also expressed in embryonic hair follicles, heart, and vascular smooth muscle cells. The main clinical symptoms of HLTS include sparse hair, alopecia totalis, lymphedema, most often affecting lower limbs, and telangiectatic lesions. Only 10 patients with a <jats:italic>SOX18<\/jats:italic> pathogenic variant have been described that presented with additional features such as hydrocele, renal failure, arterial or pulmonary hypertension, aortic dilatation, and facial dysmorphism. Here, we summarize these phenotypic variations and report an additional HLTS patient, with a 14\u2010nucleotide de novo duplication in <jats:italic>SOX18<\/jats:italic> and congenital ileal atresia, a feature not previously associated with HLTS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62205","type":"journal-article","created":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T20:44:51Z","timestamp":1618433091000},"page":"2153-2159","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Hypotrichosis\u2010lymphedema\u2010telangiectasia syndrome: Report of ileal atresia associated with a <scp><i>SOX18<\/i><\/scp> de novo pathogenic variant and review of the phenotypic spectrum"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0798-911X","authenticated-orcid":false,"given":"Richard","family":"Coulie","sequence":"first","affiliation":[{"name":"Human Molecular Genetics, de Duve Institute University of Louvain  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1094-3913","authenticated-orcid":false,"given":"Dmitriy M.","family":"Niyazov","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics Ochsner Health System and University of Queensland  New Orleans Louisiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6501-4962","authenticated-orcid":false,"given":"Michael J.","family":"Gambello","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6583-4933","authenticated-orcid":false,"given":"Elodie","family":"Fastr\u00e9","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics, de Duve Institute University of Louvain  Brussels 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