Branchiootorenal spectrum disorder (BORSD) is characterized by second branchial arch anomalies (e.g., preauricular pits and branchial cleft sinuses or cysts) and malformations of the outer, middle, and inner ear associated with conductive, sensorineural, and/or mixed hearing impairment. Congenital anomalies of the kidney and urinary tract (CAKUT) include kidney agenesis, hypoplasia, and dysplasia as well as urinary tract anomalies such as ureteropelvic junction (UPJ) obstruction, calyceal cysts and/or diverticula, and/or vesicoureteral reflux (VUR). Glomerular pathology that includes proteinuria and glomerulosclerosis has been reported. Some individuals progress to end-stage kidney disease (ESKD) depending on the severity of the kidney involvement.