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Pathogenic variants in <jats:italic>CTNND1<\/jats:italic> are classically associated with isolated cleft palate and Blefaro\u2010cheilo\u2010dontic syndrome, an autosomal dominant condition characterized by abnormalities of the eyelid. Considering different signs and symptoms associated first with Blefaro\u2010cheilo\u2010dontic syndrome and later specifically with <jats:italic>CTNND1<\/jats:italic>, Ahlaratani and colleagues proposed a wider developmental role for <jats:italic>CTNND1<\/jats:italic> than previously described, associating a broader phenotypic spectrum. This report describes a prenatal case in which a <jats:italic>CTNND1<\/jats:italic> pathogenic variant and reverse phenotyping allowed a diagnosis of Blefaro\u2010cheilo\u2010dontic syndrome associated with characteristics never related to Blefaro\u2010cheilo\u2010dontic syndrome or <jats:italic>CTNND1<\/jats:italic>, such as hydrocephalus. 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