Zespół kończynowo-nerkowo-oczny

A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other <i>SALL4</i>-related disorders including Okihiro syndrome and Holt-Oram syndrome.