Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant genetic disease, clinical manifestations of which consist of ectodermal dysplasia, such as eyelid deformity, cleft lip and palate, and abnormal teeth, as well as hypothyroidism, anal atresia, and neural tube defects caused by CTNND1 mutations (1, 2). Here, CTNND1 is linked to blepharocheilodontic syndrome.