TABLE 62-4 DIsorders Assoclated wIth Renal Dysplasla Disorder Major Features Renal anomaly Etiology Genes Asplenia with Bilateral right or left embryonic Renal dysplasia AR②208530 cardiovascular primordia, asplenia anomalies polysplenia, complex heart Bardet-Biedl Mental retardation, pigmentary Renal dysplasia, cystic tubular AR (209900) BB51-15 retinopathy, polydactyly, disease, focal segmental obesity, hypogenitalism glomerulosclerosis, bladder det stabllity Beckwith-Wiedemann Omphalocele, macroglossia, Nephromegaly, renal medullary AD (130650) CDKN1C organomegaly, islet cell dysplasia, Wilms tumor, imprinting error hyperplasia, adrenal nephrocalcinosis uniparental disomy cytomegaly, embryonic duplication, inver tumors. macrosomia sion or translocation of 11p15.5 Branchio-oto-renal Mixed hearing loss, Mondini Renal dysplasia, agenesis, and AD (113650) EYAl cochlear malformations copy: ureteral anomalies pinnae anomalies, branchial S/X5 cleft fistulas, preauricular pits Caudal dysplasia Sacral agenesis/hypoplasia, Renal dysplasia and agenesis; Heterogeneous, lower limb and skeletal anomalies of urethra and maternal anomalies. anal atresia bladder diabetes in anomalies of the uterus some patients Cerebro-renal-digital Digital and limb anomalies, Renal dysplasia, ectopy. Heterogeneous brain malformations, other agenesis, ureteral anomalies anomalies See Table 62-6 CHARGE syndrome Coloboma, heart anomalies, Cystic renal dysplasia, renal CHDZ choanal atresia. mental agenesis, ureteric anomalies AD(214800)