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Angelman syndrome | 105830 | 1 | Loss of SNRPN methylation; no evidence of 15q11 deletion or UPD | | Unpublished* |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cephalopolysyndactyly syndrome | 175700 | 1 | Dominant history of Greig syndrome, one individual with Wilms tumour | | Unpublished* |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 |