Bladder exstrophy is a devastating congenital abnormality of the urinary tract in which infants are born with the urinary bladder extruded through their abdominal wall, a urethra that is open dorsally, and significant secondary abnormalities of the genitalia. While the etiology of bladder exstrophy is not known, a clear genetic component has been highlighted. Herein we describe the advances in bladder exstrophy genetics, including epidemiologic and observational studies and advanced genetic technological studies, including copy number variant analyses, genome-wide association analyses, and gene association studies. Overall, the genetic analysis of bladder exstrophy is still in its infancy. Due to the rare nature of this disease, future collaborations across research groups will be needed to make significant strides in gaining a more complete understanding of the genetic underpinnings of bladder exstrophy.