We screened several dosage-sensitive or suspected dosage-sensitive genes, including genes TBX1 (22q11.21), MAPK1 (22q11.22), PCYT1A (3q29), and DLG1 (3q29) related to cleft lip/palate, LHX1 (17q12) related to macrocephaly, SF3B4 (1q21.2) related to micrognathia, FOXC1 (6p25.3) related to ocular hypertelorism and midfacial hypoplasia, ZIC2 (13q32.3) related to cleft lip/palate and abnormal skull shape, SHH (7q36.3) related to multiple CFMs, CREBBP (16p13.3) related to complex CFMs, and SNRPB or CSNK2A1 (20p13) related to microcephaly. Here, PCYT1A is linked to Macrocephaly.