raser syndrome Cryptophthalmia, cleft lip. enal dysplasia or agenesis AR(219000 FRASI FREM2 palate, genital anomalies ureteric anomalies atresia of ear canal. anal atresia, syndactyly Genitopalatocardiac Male pseudohermaphroditism, Renal cystic dysplasia AR(231060) micrognathia, cleft palate conotruncal cardiac anoma lies. other anomalies Harrod syndrome Arachnodactyly, hypospadias, Cortical microcysts of the kidney, ?AR (601095) cryptorchidism, distinctive renal dysplasia, ureteral facial features, anomalous anomalies vUr vasculature, gut malrotation Hemifacial microsomia Facial asymmetry, epibulbar Renal cystic dysplasia, agenesis, Heterogeneous oculoauriculover dermoid, coloboma, anotia, or ectopia; hydronephrosis AD(164210 tebral spectrum, preauricular tags, deafness, and hydroureter: abnormal vertebral anomalies, heart blood supply to kidney anomalies, variable brain malformations Hypoparathyroidism hypoparathyroidism Renal dysplasia, nephrosis AD(146255) GA TA3 sensorineural sensorineural hearing loss deafness, and renal and renal dysplasia disease Lenz microphthalmia Microphthalmia, coloboma: Renal agenesis or dysplasia, XLR(09800 BCOR mental retardation skeletal hydroureter dental, genital, and cardio vascular anomalies Limb-body wall Lateral body wall deficiency enal agenesis or dysplasia, Sporadic complex limb reduction anomalies ureteral and urethral anoma neural tube defects, scoliosis, lies; fused/ectopic kidneys heart anomalies bladder exstrophy McKusick-Kaufman Hydrometrocolpos, transverse Polycystic kidney, vesico- AR(236700) B8S6 vaginal membra aginal fistula, hydro septum, postaxial poly nephrosis(secondary to dactyly, cardiac anomalies ureteral compression from I0000
Disorder Major Features Renal anomaly Etiolog Genes Microcephaly, hiatus Microcephaly, seizures, Nephrotic syndrome, micro- AR (251300) hernia and psychomotor retardation, cystic dysplasia, focal nephrotic syndrome eye anomalies glomerulosclerosis, diffuse (Galloway-Mowat) mesangial sclerosis MURCS association Mullerian duct aplasia, renal Renal agenesis, dysplasia, or Sporadic (601076) agenesis, absent vagina ectopia ureteral and urethral uterus cervicothoracic anomalies somitic vertebral anomalies, short stature Multinodular goiter, Multinodular goiter, Renal dysplasia, polycystic AD(138790) cystic renal triphalangeal thumbs, kidney anomalies disease, and digital preaxial polydactyly of feet anoma lies Neural tube defects Meningomyelocele, Renal agenesis, hypoplasia, Heterogeneous anencephaly, encepha- dysplasia, or fusion, ureteral multifactorial locale, vertebral anomalies anomalies. anomalies of schists association midline anomalies Renal hamartomas Fetal macrosomia, hypotonia, Bilateral renal hamartomas, AR (267000) nephroblastoma. psychomotor retardation, nephroblastomatosis, Wilms sis, and fetal seration of upper alveolar tumor gigantism(Perlman) ridge, can be perinatal lethal
Nephronophthisis 2 Hypertension, pulmonary Cortical microcysts, tubular AR (602088) S hypoplasia phy, chronic tubulointerstitial nephritis, enlarged hyperechoic kidneys, absence of corticomedulla differentiation renal failure by age 3 Potter oligohydramnios Clinical features resulting from Bilateral renal agenesis, aplasia, Heterogeneous sequence oligohydramnios hypoplasia, or dysplasia Renal dysplasia Internal genital tract anomalies: Renal agenesis, hypoplasia AD(191830 RET, UPKA occasional anomalies of or dysplasia; ureteral and anus, heart, spine, hands, urethral anomalies and feet Renal-hepatic See table 62-5 ncreatic Sacral defect with ante- Fusion of lower limbs, sacral Urethral atresia, ectopic urethra, AD(600145) VANGL1 rior meningocele agenesis, anal atresia posterior urethral valves (Sirenomelia) uterine/vaginal renal agenesis and dysplasia anomalies, cardiac defects ureteral and bladder anomalies Senior-Loken Pigmentary retinal dysplasia, Renal dysplasia, juvenile AR(266900 NPHP1 (Renal-retinal) occasional hypotonia nephronophthisis, medullary seizures, hearing loss, cystic disease psychomotor retardation Simpson-Golab- Prenatal and postnatal Large cystic dysplastic kidneys, XLR (312870) Behmel overgrowth, variable mental hydronephrosis, duplication function characteristic of renal pelvis, Wilms tumor facial appearance, post- axial polydactyly, structural anomalies ot organ systems