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WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for W ilms tumor, A niridia, G enitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and R ange of developmental delays. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited. Treatment of WAGR syndrome is aimed at addressing the specific symptoms that are present in each individual.
Source: GARD Last updated on 05-01-20
GeneReviews provides current, expert-authored, peer-reviewed, full-text articles on this topic from the perspective of Aniridia and Wilms tumor. These articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Last updated on 04-27-20
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