TFAP2B and Char syndrome: Char syndrome (OMIM#169100), characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies, was the first known congenital genetic disorder linked to TFAP2B. This syndrome is caused by heterozygous missense variants in the gene, suspected to result in a dominant negative effect (Satoda et al., 2000; Zhao et al., 2001; Edward et al., 2019).