The discovery of loss‐of‐function mutations in the CHD7 gene in patients with CHARGE syndrome (Janssen et al., 2012; Vissers et al., 2004), has led to significant progress in elucidating the developmental and molecular genetic mechanisms underlying specific phenotypes associated with CHARGE syndrome (Layman, Hurd, & Martin, 2010). The gene discussed is CHD7; the disease is CHARGE syndrome.