Abstract: Oral-facial-digital syndrome type-Ⅰ(OFD type-Ⅰ) is a rare congenital syndrome characterized by eccyliosis and malformations of the oral cavity, face and bones. A case of OFD I type with cleft lip and palate, the teeth deformities, short syndactyly, congenital heart and brain hypoplasia was reported, combined with review of the literature to summarize its etiology and the treatment so as to provide a reference for clinical diagnosis and treatment.