Abstract: Oral-facial-digital syndrome is a congenital syndrome, which is mainly manifested in the facial deformity, abnormal oral cavity and skeletal deformity. It is very rare, and difficult to be diagnosed. Through the whole exon sequencing, one missense mutation（c. 2524 G＞A）was identified, so we finally confirmed the diagnosis of the child who was suspected as OFD, and also found her mother carried the same mutation.

Key words: oral-facial-digital syndromes, OFD1 gene, genetic diagnosis