Newborn children with WAGR syndrome are soon noted to have aniridia.

While aniridia is rarely absent in WAGR syndrome, cases have been reported without it.

Germline mutations were then identified at chromosome 11p13 in children with WAGR syndrome.

Females with WAGR syndrome may have streak ovaries, which can increase their risk for gonadoblastoma.

These patients often also have genitourinary abnormalities and mental retardation (WAGR syndrome).

Provides information and support to persons with WAGR syndrome or aniridia, their families, physicians and teachers.

The incidence of bilateral Wilms tumor in children with WAGR syndrome is about 15%.

WAGR syndrome (Wilms tumor, aniridia, abnormal genitourinary system, and mental retardation).

WAGR syndrome, Denys-Drash syndrome, or sporadic aniridia.

The constellation of WAGR syndrome occurs in association with an interstitial deletion on chromosome 11 (del[11p13]).

Examples of nonovergrowth syndromes associated with Wilms tumor include the following: WAGR syndrome (aniridia, genitourinary anomaly, and mental retardation).

Children with WAGR syndrome or other germline WT1 mutations are at increased risk of eventually developing hypertension, nephropathy, and renal failure and should be monitored throughout their lives.

A subset of WAGR syndrome patients shows severe childhood obesity; the acronym WAGRO (O for obesity) has been used to describe this category.

The mental retardation in WAGR syndrome may be secondary to deletion of other genes including SLC1A2 or BDNF (brain-derived neurotrophic factor).

Aniridia in some individuals is associated with kidney nephroblastoma (Wilms tumor), genitourinary anomalies, or mental retardation and cerebellar ataxia (Gillespie syndrome), resulting in the WAGR syndrome.

The term "WAGR syndrome" is now being replaced by "11p deletion syndrome" to more accurately reflect current knowledge about the disorder and to allow for consistent clinical diagnosis and genetic classification in the future.

For the WAGR syndrome, high-resolution cytogenetic analysis and fluorescence in situ hybridization (FISH) can be utilized to identify deletions within chromosome band 11p13, where both the PAX6 and WT1 genes are located.

WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and mental Retardation.

Children with WAGR syndrome receive regular (3-4 monthly) kidney surveillance for Wilm's tumour until at least the age of 6-8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients over the age of 12 years).

Children with a significantly increased predisposition to develop Wilms tumor (e.g., most children with Beckwith-Wiedemann syndrome, WAGR syndrome, Denys-Drash syndrome, hemihypertrophy, or sporadic aniridia) should be screened with ultrasound every 3 months at least until they reach age 8 years.

Breslow NE, Norris R, Norkool PA, et al.: Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group.