A hereditary autosomal dominant disorder characterized by both ocular abnormalities including coloboma and renal anomalies such as renal hypoplasia, insufficiency and vesicoureteral reflux. Less common findings include HIGH FREQUENCY HEARING LOSS, central nervous system anomalies, soft skin, ligamentous laxity, and/or genital anomalies. The disorder shows wide inter- and intrafamilial variability and is caused by mutations in the PAX2 gene. OMIM: 120330
Also Known As:
Coloboma of optic nerve with renal disease; Coloboma-Ureteral-Renal Syndrome; Optic Nerve Coloboma Renal Syndrome; Optic coloboma, vesicoureteral reflux, and renal anomalies; Optic nerve coloboma with renal disease; Renal Coloboma Syndrome; Renal Hypoplasia, Isolated; Renal-Coloboma Syndrome With Macular Abnormalities; Renal-coloboma syndrome