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This report presents a novel case of <jats:italic>CTNND1<\/jats:italic>\u2010related BCD syndrome in a 3\u2010year\u2010old female. In addition to the typical features, including unilateral cleft lip\/palate and eyelid malformations, the patient exhibited a duplex kidney, ureterocele, and a bicornuate uterus\u2014phenotypic traits not previously associated with BCD syndrome. Whole exome sequencing identified a <jats:italic>de novo<\/jats:italic> heterozygous pathogenic splice site variant in <jats:italic>CTNND1<\/jats:italic>, confirming the diagnosis. The presence of these additional urogenital anomalies suggests a potential expansion of the BCD syndrome phenotype. This case highlights the need for further investigation into the spectrum of anomalies associated with BCD syndrome, recommending ultrasound evaluation of the urinary tract in newly diagnosed individuals.<\/jats:p>","DOI":"10.1002\/ajmg.a.64033","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T20:50:28Z","timestamp":1741726228000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["New Genitourinary Findings in <scp>CTNND1<\/scp> Blepharocheilodontic Syndrome"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-9425-1866","authenticated-orcid":false,"given":"Lily","family":"Loughman","sequence":"first","affiliation":[{"name":"Genetic Health Western Australia  Subiaco Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naeem","family":"Samnakay","sequence":"additional","affiliation":[{"name":"Perth Children's Hospital  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