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. The gene discussed is SF3B4; the disease is Macrocephaly.