CHD7 and campomelic dysplasia: Potentially pathogenic variants were discovered in the FAS and pFAS groups, including those known to cause craniofacial malformations, such as SOX9 (Campomelic Dysplasia), STRA6 (Matthew–Wood), CHD7 (CHARGE), MID1 and MED15 (Opitz–Kaveggia syndrome), and several 22q11.2DS genes [20].