Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small kidney
size, and disorganized renal tissue. A hereditary basis has been established for a subset of
affected patients, suggesting a major role of developmental genes that are involved in early
kidney organogenesis. Gene mutations that have dominant inheritance and cause RHD,
urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2
(renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 …