Smith-Lemli-Opitz Microcephaly, postaxial Unilateral renal agenesis orcystic AR (27400) DHCR7 polydactyly, ambiguous dysplasia, fused kidneys genitalia, facial dysmorphism; 2-3 toe syndactyly, disorder of cholesterol metabolism Teratogen exposures See Table 62-3 Tuberous sclerosis Hypopigmented macules, Renal angiomyolipomas AD191100 TSCI TSC2 adenoma sebaceum retinal (70%), renal epithelial cysts and brain tumors or pha. (20-30%), oncocytoma, renal komas mental retardation cell carcinoma, polycystic seizures kidney disease Urethral obstruction Deficient abdominal muscle, posterior urethral valves, urethral Heterogeneous urinary obstruction/ atresia, ureteral duplication, (prune belly distension undescended bladder distension, renal syndrome) testes malrotation of the dysplasia, hydronephrosis gut, clubfeet, limb reduction anomalies Urorectal septum Mullerian duct anomalies Renal agenesis, hypoplasia Sporadic, maternal malformation persistent cloaca, ambiguous and dysplasia; ureteral and diabetes in some genitalia, imperforate anus, urethral anomalies patients ther anomalia VACTERL association Vertebral defects, anal atresia, Renal agenesis, hypoplasia, Sporadic (192350) cardiac malformation and dysplasia, ureteric and tracheoesophageal fistula urethral anomalies radial ray hypoplasia/ aplasia, genitourinary and limb anomalies Zellweger Hypotonia, seizures Renal cortical microcysts AR(214100) PEX1-3,5610 cirhosis, peroxisomal absent renal peroxisomes, 121416,1926 enzyme deficiency of hydronephrosis dihydroxyacetone phosphate DHAP)acyltransferase