Abstract: Objectives  To analyze the clinical features and gene types of Apert syndrome (AS). Methods The clinical data of one boy with AS were retrospectively revisited and FGFR2 of the boy and his father were analyzed with PCR  amplification and gene sequencing. The relevant literatures were reviewed. Results The boy was one year and one month  old, with brachycephaly, exophthalmos, hypertelorism, low set ears, micrognathia, high-vaulted arch, without cleft palate, and  with syndactyly of both fingersⅠ-Ⅴ and toesⅠ-Ⅴ. A heterozygous mutation (c.758C?>?G,p.P253R) in exon 7 of FGFR2 was  detected in the boy, supporting the diagnosis of AS. The relevant gene mutation was not detected in his father. Among the 24 cases  of AS retrieved from literature, 22 cases were with obvious craniofacial malformations, one with mild craniofacial malformations  and one without craniofacial malformations. All cases were with syndactyly of both fingers and toes. Thirteen cases of FGFR2 were with S252W mutation, 3 cases with P253R , 3 cases with Alu insertion, one with 1.93-kb deletion, removing exon IIIc and  substantial portions of the flanking introns, one case with a heterozygous 1372 bp deletion between FGFR2 exons IIIb and IIIc,  2 cases with (c.756_758delGCCinsCTT) in the IgIIe-IgIIIa linker region and one case with sequence variant T78.501A in intron 8.  Conclusions Apert syndrome present with craniofacial malformations and syndactyly of hands and feet, S252W and P253R  are main mutations of AS.