These siblings shared many characteristics of BWSp, such as macroglossia, cleft palate, and omphalocele; however, sensorineural hearing loss, a less common feature, was observed in the proband and in his younger sister, once again supporting the intrafamilial phenotypic heterogeneity observed in patients that share the same pathogenic CDKN1C variant. Here, CDKN1C is linked to macroglossia.