The initial descriptions of MYRF-related syndromic disease (Chitayat et al., 2018; Pinz et al., 2018) led to a new definition of a rare cardiac-urogenital syndrome [CUGS; Online Mendelian Inheritance in Man (OMIM) #618280] that includes CHD, genitourinary anomalies, congenital diaphragmatic hernia and pulmonary hypoplasia (Chitayat et al., 2018; Krane et al., 2021; Qi et al., 2018; Rossetti et al., 2019; Tanaka et al., 2021). The gene discussed is MYRF; the disease is congenital diaphragmatic hernia.