Cardiac-urogenital syndrome
OMIM number: 618280
Comments closing date: 08/06/2026
Cardiac-Urogenital Syndrome (CUGS), or MYRF related CUGS, is a rare autosomal dominant, multisystem disorder caused by variants in the MYRF gene. It presents with complex congenital heart defects (94%), urogenital abnormalities (75%), and congenital diaphragmatic hernia (63%). It is usually diagnosed prenatally or at birth, but there is wide clinical variability and some patients can be mildly affected.
