paediatrics Brussels 17

Congenital Syndromes

Syndrome

Presentation

Genetic Change

Incidence of Wilms’ Tumor

WAGR

Aniridia, genitourinary anomalies, mental retardation Intersexual disorders, nephropathy Macroglossia, organomegaly, neonatal hypoglycemia, gigantism

Monoallelic deletion at chromosom e 11p13

> 30%

Denys-Drash

WT1 point mutation

> 90%

Beckwith- Wiedemann

Duplication of paternal allele

< 5%