Cardiac-urogenital syndrome is a rare condition first defined in 2018, when two male children and one male fetus with congenital heart disease (including scimitar syndrome and hypoplastic left heart syndrome) and other congenital anomalies (including hypospadias, cryptorchidism, congenital diaphragmatic hernia, and pulmonary hypoplasia) were reported to have de novo, likely pathogenic variants in the MYRF gene (Chitayat et al. 2018; Pinz et al. 2018). Since then, there have been at least 13 additional cases described in the medical literature with similar clinical presentations. Commonly affected organs/organ systems include the heart (94%), lungs (44%), diaphragm (63%), and genitourinary tract (75%) (Qi et al. 2018; Rossetti et al. 2019). All individuals were ascertained either prenatally or at birth given the presence of congenital anomalies.