CTNND1 and blepharocheilodontic syndrome: In 2017, Ghoumid et al. first reported that BCD syndrome was a CDH1 pathway-related disorder due to variants in CDH1 and CTNND1, and identified five CDH1 deleterious missense variants and three CTNND1 truncating variants in 11 patients with BCD syndrome from eight families [7].