The distributions of the PDGFA-rs2070958 C/T alleles and PDGFA-rs9690350 G/C alleles were significantly different between AMS (+) and AMS (-) groups, with AMS (-) subjects exhibited a higher frequency of the T in rs2070958 and the C in rs9690350 (P < 0.05). Here, PDGFA is linked to ablepharon macrostomia syndrome.