Denys-Drash syndrome, also known as Drash syndrome, is the combination of Wilms tumor (a malignant cancerous tumor of the kidney), pseudohermaphroditism (unambiguous gonadal sex with ambiguous external genitalia), and nephrotic syndrome (the deterioration of the kidney’s renal tubular epithelium). This syndrome is characterized as a rare genetic disorder caused by the mutation of the Wilms tumor suppressor gene. The majority of the 150 identified cases of Denys-Drash have been male. This syndrome is usually detected during early infancy and most commonly results in chronic renal failure.
A rare congenital syndrome caused by a mutation in the Wilms’ tumor gene that includes male pseudohermaphroditism, progressive renal failure, and an increased risk for genitourinary tumors.