Named Syndromes

WAGR syndrome

Characterized by

• wilms' tumor 33%
• aniridia
• genital anomalites
• mental retardation

Genetic

• 11p13 (WT-1) defect (nonsense or frameshift mutation)

Denys-Drash Syndrome

Characterized by

• ambiguous genitalia (male pseudohermaphroditism)
• steak gonads
• renal failure
• susceptibility to Wilms' tumor (majority)

Genetic

• 11p13 (WT-1) defect (missense mutation)

Beckwith-wiedemann Syndrome

Characterized by

• enlargement of body organs
• hemihypertrophy
• renal medullary cysts
• abnormal large cells in adrenal cortex

Genetic

• 11p15.5 (WT-2)
• development of Wilm's tumor is associated with WT-1 defect (missense mutation)