Table 2

 Phenotypes reported in association with Wilms tumour in which an increased risk is uncertain or unlikely

DisorderOMIMNo of cases (families)Further detailsReferences
*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 syndrome3000681150
Angelman syndrome1058301Loss of SNRPN methylation; no evidence of 15q11 deletion or UPDUnpublished*
Branchial cleft anomalies–Wilms tumour3 (1)Mother and two daughters with Wilms tumour and bilateral auditory canal stenosis; mother had hemihypertrophy of left breast, daughters had eye abnormalities151
Cleidocranial dysostosis11960019
Cornelia de Lange syndrome1224701Two cases have also been reported with nephrogenic rests152153
Currarino syndrome1764501Presacral ectopic Wilms tumour154
Down syndrome1906852 (2)155, 156
Epidermal naevus syndromes3 (3)157–159
Fragile-X syndrome3095501160
Greig cephalopolysyndactyly syndrome1757001Dominant history of Greig syndrome, one individual with Wilms tumourUnpublished*
Hay-Wells syndrome1062601Bilateral Wilms tumour; familial reticulate pigmentation of skin also present161
Holoprosencephaly and neuronal migration defects1162
Hyperprolinaemia type 12395001Renal abnormalities present in three generations of the family163
Imperforate anus with rectourethral fistula1164
Incontinentia pigmenti3083002 (2)165, 166
Juvenile polyposis syndrome1749001BMPR1A splice-site mutation; colonic carcinoma, adrenal hamartoma, Ebstein anomaly167
Klippel-Trenaunay syndrome1490001Bilateral nephroblastomatosis also reported in one case168169
Macrocephaly-cutis marmorata telangiectatica congenita6025011170
Marfan syndrome1547001171
Marshall-Smith syndrome6025351Wilms tumour developed after case published172
Moebius syndrome1579001Arthrogryposis and mega cisterna magna173
Monopedal syrenomelia1Left renal agenesis, absent external genitalia, imperforate anus, absence of greater omentum, patent ductus arteriosus174
Neurofibromatosis type 11622007 (7)175
Noonan syndrome16395019
Osteogenesis imperfecta1Molecular defect not defined; hemihypertrophy9
Peters anomaly6042291176
Pierre Robin sequence2618001Developmental delay177
Poland anomaly1738001Ipsilateral shortening of lower limb178
Polycythaemia, ichthyosis, and ear1179
Prader-Willi syndrome1762701180
Russell-Silver syndrome1808601181
Tuberous sclerosis1911001182
Turner syndrome6 (6)141, 183, 184
VATER association1923501185