Disorder Major Features Renal anomaly Etiology Genes Polycystic kidney, Hepatic cysts (hepatic fibrosis is Cystic disease of renal medulla an AD(173900)PKD1 autosomal unusual), mitral valve prolapse connexin nephrons and collecting PKD2 dominant (25%), berry aneurysms of tubules cerebral (10-36%)and abdominal vessels, cysts in pancreas, ovaries, lungs and other diverticulitis Polycystic kidney, Hepatic fibrosis, biliary dysgenesis, Medullary ductal ectasia, cortical cysts AR(263200) PKHDI autosomal pancreatic dysplasia recessive Polycystic kidney Microbrachycephaly, hypertelorism, polycystic kidney disease, with cortical AR(263210) disease, potter type brachymelia and distinctive cysts and medullary ductal ectasia . with micro- facial features (Potter type I) brachycephaly, hypertelorism and brachymelia Senior-Loken(renal Pigmentary retinal dysplasia Renal dysplasia, juvenile nephrophthisis, AR(266900) NPHP1 dysplasia-retinal hypotonia, seizures, hearing loss, medullary cystic disease aplasia) mental retardation Short rib polydactyly, Median cleft lip pre/postaxial Renal dysplasia, multicystic kidneys, AR(263520) NEK1 type ll (Majewski) polydactyly, short ribs and limbs: glomerular and renal tubular cysts genital, laryngeal, epiglottic and visceral anomalies, pachygyria billiary dysgenesis; pancreatic dysplasia, lethal