Clinical feature: 

Definition: The Denys-Drash syndrome is an autosomal recessive congenital disorder characterized by the triad of progressive renal disease, male pseudohermaphroditism, and Wilms tumor. The disorder is caused by heterozygous germline missense mutations in the zinc-finger motife (mainly exon 8 or 9) of the WT1 gene.

Diagnostics: 

Differential: The WAGR syndrome is also a congenital syndrome with malformations and Wilms tumor but typically with aniridia.  » » » 
   Prenatal hyperechogenic kidneys are also present in autosomal recessive polycystic kidney disease.  » » » 

Literature: 

Fischbach BV et al. (2005) WAGR syndrome: a clinical review of 54 cases.
van Heyningen V et al. (2007) Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.
Fischbach BV et al. (2005) WAGR syndrome: a clinical review of 54 cases.