Aniridia-Wilms tumor association (WAGR syndrome)

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Aniridia-Wilms tumor association (WAGR syndrome) is a rare genetic disorder whose name refers to its characteristic association of Wilms tumor, aniridia, genitourinary abnormalities, and neurodevelopmental or intellectual impairment (historically termed “mental retardation,” a term that is now considered outdated and inappropriate). It can occur as an inherited or de novo genetic condition, so absence of a relevant family history does not exclude the diagnosis. Most cases are caused by a de novo deletion of chromosome 11p13, although rare inherited cases can occur. A distinctive presentation may include the combination of features to which the condition's name refers.

It can present with psychiatric features such as obsessive-compulsive disorder (OCD), autism spectrum disorder (ASD), ADHD, anxiety, depression, behavioral dysregulation, and sensory-processing difficulties. Cognitive impairment, developmental delay, learning difficulties, and language impairment may also occur. These manifestations are generally recognized during childhood or development, although neuropsychiatric difficulties may persist into adulthood and may sometimes be recognized or diagnosed later.

From a morphologic lens perspective, other features include (but are not limited to):

  • Microcephaly

  • Micrognathia

  • Ptosis

  • Thick vermilion

Other characteristic features include ocular abnormalities such as foveal hypoplasia, nystagmus, reduced visual acuity, cataracts, and glaucoma; renal abnormalities, including nephrogenic rests and chronic kidney disease; and genitourinary abnormalities, including cryptorchidism and hypospadias in males and gonadal or uterine abnormalities in females. Neurologic manifestations may include hypotonia and seizures/epilepsy, while other reported features include obesity, hypertension, sleep-disordered breathing, gastrointestinal abnormalities including constipation and pancreatitis, recurrent infections, hearing impairment, and scoliosis.

Early diagnosis is important to identify and monitor the increased risk of Wilms tumor and nephrogenic rests, detect and manage renal, genitourinary, and ophthalmologic abnormalities, identify developmental, cognitive, and neuropsychiatric needs early, and institute tailored multidisciplinary surveillance and treatment. Early recognition can therefore reduce the risk of potentially serious complications, facilitate appropriate genetic counseling and family assessment, guide individualized management, and improve long-term health, functioning, and quality of life.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.