Disorder Major features Renal anomaly Etiology Genes Digeorge syndrome Sacral meningocele, Unilateral renal agenesis, AD (188400) 22q11. 2 deletion hydrocephalus, conotrun. dysplasia, hydronephrosis cal heart anomalies hypoplasia of the thymus and parathyroid glands, hypocalcemia Early amnion rupture Digital and limb amputations Renal dysplasia, agenesis, and Sporadic ring constrictions, facial ectopy, ureteric anomalies clefts, body wall defects brain anomalies Ectrodactyly Renal agenesis or cystic AD (129900) ectodermal dysplasia, clef lip/pa dysplasia, ureteral and fEC dysplasia-clefting abnormal hearing, internal bladder anomalies, TP63 (EEC) genital tract anomalies, anal duplicated collecting system atresia Fanconi pancytopenia Pancytopenia, anemia; Renal agenesis (39%)or AR (227650) FANC(A, G-G L 4L-P) radial aplasia dysplasia, duplication of hypoplasia, microcephaly, pelvis and/or ureter, ectopic short stature variable eye, or horseshoe kidney. ea, and heart anomalies hydronephrosis increased chromosome breakage