WAGR Syndrome is a rare condition. In most cases, it consists of Wilms tumor, Aniridia (the absence of irises in the eyes) Genital or urinary tract abnormalities, and mental retardation.
In some cases of WAGR syndrome, aniridia and/or mental retardation are not present. In addition, girls with WAGR syndrome may not have obvious or external genital abnormalities.
Infants born with sporadic (non-inherited) aniridia should be referred for genetic testing for WAGR syndrome. If WAGR syndrome is present, there is a 50% risk for development of Wilms tumor. Children with sporadic aniridia require abdominal ultrasound surveillance for Wilms tumor every 3 months from birth to at least age 6-8 yrs.
Boys with Wilms tumor and genital abnormalities, such as undescended testicles or hypospadias, or children with Wilms tumor who have learning disabilities, cognitive impairment, or behavioral difficulties should also be considered for referral for genetic testing for WAGR syndrome.
Accurate and timely diagnosis of WAGR syndrome is important to maximizing health, education, and quality of life for children with this condition. Additional information for parents and physicians, as well as support for patients and their families can be found here:
International WAGR Syndrome Association:
http://www.wagr.org/
Kelly Trout, RN, BSN
Health Consultant, International WAGR Syndrome Association
