Table 1.
Human syndromes with vesico-ureteric reflux (VUR)
| Syndromes | Kidney and urinary tract phenotype | Other associated abnormalities | Inheritance pattern | Disrupted gene product |
|---|---|---|---|---|
| Acrorenal (Siegler) | VUR, renal ectopia, HN, ureteral atresia/stenosis | SS, hypoplastic radii/ulnae/humeri, oligodactyly | U | |
| Adrenal hypoplasia-MR | VUR, HN, ureteral atresia/stenosis | Aminoaciduria, MR, muscular dystrophy, visual abnormality | XL | |
| Bardet-Biedl | VUR, renal cysts/dysplasia, duplicity, HN, nephritis/sclerosis | Obesity, polysyndactyly, MR, retinopathy, hypogonadism | AR | BBS 1-10 |
| Branchio-oto-renal | VUR, renal agenesis, hypoplasia/dysplasia, duplicity, obstruction, HN | Branchial remnant, preauricular pit/tag, microtia, deafness | AD | EYA1 or SIX1 |
| Cat eye | VUR, renal agenesis, hypo/dysplasia, duplicity, HN | Atresia of colon, anus, genitalia, vertebral defects, transesophageal fistula | C | 22 partial tetrasomy; inv dup (22) (q11) |
| DiGeorge/velocardiofacial | VUR, renal hypoplasia, duplicity, HN | Conotruncal CHD, thymic aplasia, typical face, cleft palate | C | 22q11 deletion |
| Ectrodactyly-ectodermal dysplasia-clefting | VUR, renal agenesis, renal dysplasia, cysts, HN | Ectrodactyly, hypohidrosis, sparse hair, cleft lip/palate | AD | |
| Epstein | VUR | Thrombocytopathia, nerve deafness, cataract | AD | MYH9 |
| Goldenhar (oculo-auriculo-vertebral) | VUR, renal agenesis, renal dysplasia, HN, duplicity | Hemifacial microsomia, ear anomalies, vertebral defects | S, AD | |
| Hypoparathyroidism-deafness-renal dysplasia | VUR, renal hypoplasia, renal aplasia | Hypoparathyroidism, deafness | AD | GATA3 |
| Kabuki | VUR, horseshoe kidney, duplicity, HN, | MR, Kabuki-like face, large ears, cleft palate | U | |
| Kallmann | VUR, duplicity, renal agenesis | Anosmia, cleft lip/palate, hypogonadotrophic hypogonadism | XL, AD, AR | ANOSMIN-1 |
| Nager acrofacial dysostosis | VUR, renal agenesis, HN, duplicity | Facial bone hypoplasia, cleft eyelid, radial ray defect | AD | ZFP37 |
| Polydactyly-obstructive uropathy | VUR, HN, ureteral/urethra diverticulae | Postaxial polydactyly of hands and feet | U | |
| Renal-coloboma | VUR, renal hypoplasia/dysplasia, renal agenesis | Optic nerve coloboma, nerve deafness | AD | PAX2 |
| Urogenital adysplasia | VUR, renal agenesis, renal hypo/dysplasia, HN | Abnormal uterus, deformity of feet and hands | AD | |
| Renal/Müllerian hypoplasia | VUR, horseshoes kidney, renal hypoplasia | Absent uterus, broad forehead, DD, large fontanel | AR | |
| Townes-Brocks | VUR, renal agenesis, renal dysplasia, duplicity, ureteral/urethra diverticulae | Triphalangeal thumb, imperforate anus, skin tag, deafness | AD | SALL1 |
| Wolfram | VUR, HN | Diabetes mellitus/insipidus, optic atrophy, nerve deafness | M | WFS1-2 |
AD autosomal dominant, AR autosomal recessive, C chromosomal, CHD congenital heart disease, DD development delay, HN hydroureteronephrosis, M mitochondrial, MR mental retardation, S sporadic, SS short stature, U uncertain, XL X-linked (modified from [2]).