Phenotypes reported in association with Wilms tumour in which an increased risk is uncertain or unlikely
| Disorder | OMIM | No of cases (families) | Further details | References | |
|---|---|---|---|---|---|
| *Cases identified through UK Children’s Cancer Study Group (UKCCSG) investigation of Wilms tumour genes study. | |||||
| VATER, vertebral defects–anal atresia–tracheo-oesophageal fistula–oesophageal atresia–radial and renal dysplasia. | |||||
| Androgen insensitivity syndrome | 300068 | 1 | 150 | ||
| Angelman syndrome | 105830 | 1 | Loss of SNRPN methylation; no evidence of 15q11 deletion or UPD | Unpublished* | |
| Branchial cleft anomalies–Wilms tumour | – | 3 (1) | Mother and two daughters with Wilms tumour and bilateral auditory canal stenosis; mother had hemihypertrophy of left breast, daughters had eye abnormalities | 151 | |
| Cleidocranial dysostosis | 119600 | 1 | 9 | ||
| Cornelia de Lange syndrome | 122470 | 1 | Two cases have also been reported with nephrogenic rests152 | 153 | |
| Currarino syndrome | 176450 | 1 | Presacral ectopic Wilms tumour | 154 | |
| Down syndrome | 190685 | 2 (2) | 155, 156 | ||
| Epidermal naevus syndromes | – | 3 (3) | 157–159 | ||
| Fragile-X syndrome | 309550 | 1 | 160 | ||
| Greig cephalopolysyndactyly syndrome | 175700 | 1 | Dominant history of Greig syndrome, one individual with Wilms tumour | Unpublished* | |
| Hay-Wells syndrome | 106260 | 1 | Bilateral Wilms tumour; familial reticulate pigmentation of skin also present | 161 | |
| Holoprosencephaly and neuronal migration defects | – | 1 | 162 | ||
| Hyperprolinaemia type 1 | 239500 | 1 | Renal abnormalities present in three generations of the family | 163 | |
| Imperforate anus with rectourethral fistula | – | 1 | 164 | ||
| Incontinentia pigmenti | 308300 | 2 (2) | 165, 166 | ||
| Juvenile polyposis syndrome | 174900 | 1 | BMPR1A splice-site mutation; colonic carcinoma, adrenal hamartoma, Ebstein anomaly | 167 | |
| Klippel-Trenaunay syndrome | 149000 | 1 | Bilateral nephroblastomatosis also reported in one case168 | 169 | |
| Macrocephaly-cutis marmorata telangiectatica congenita | 602501 | 1 | 170 | ||
| Marfan syndrome | 154700 | 1 | 171 | ||
| Marshall-Smith syndrome | 602535 | 1 | Wilms tumour developed after case published | 172 | |
| Moebius syndrome | 157900 | 1 | Arthrogryposis and mega cisterna magna | 173 | |
| Monopedal syrenomelia | – | 1 | Left renal agenesis, absent external genitalia, imperforate anus, absence of greater omentum, patent ductus arteriosus | 174 | |
| Neurofibromatosis type 1 | 162200 | 7 (7) | 175 | ||
| Noonan syndrome | 163950 | 1 | 9 | ||
| Osteogenesis imperfecta | – | 1 | Molecular defect not defined; hemihypertrophy | 9 | |
| Peters anomaly | 604229 | 1 | 176 | ||
| Pierre Robin sequence | 261800 | 1 | Developmental delay | 177 | |
| Poland anomaly | 173800 | 1 | Ipsilateral shortening of lower limb | 178 | |
| Polycythaemia, ichthyosis, and ear | – | 1 | 179 | ||
| malformations | |||||
| Prader-Willi syndrome | 176270 | 1 | 180 | ||
| Russell-Silver syndrome | 180860 | 1 | 181 | ||
| Tuberous sclerosis | 191100 | 1 | 182 | ||
| Turner syndrome | – | 6 (6) | 141, 183, 184 | ||
| VATER association | 192350 | 1 | 185 | ||