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WAGR syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

WAGR syndrome

WAGR syndrome is a rare genetic disorder characterized by a combination of kidney cancer risk, eye abnormalities, genitourinary issues, and developmental delays. It is caused by the deletion of neighboring genes on chromosome 11.

Overview

WAGR syndrome is a disorder that affects many body systems. The condition is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and a range of developmental delays. When the syndrome includes childhood-onset obesity, it is referred to as WAGRO syndrome.

Symptoms & Features

The signs and symptoms of WAGR syndrome vary and can affect multiple organs and developmental areas:

  • Wilms tumor: Individuals with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This cancer is most often diagnosed in children but can sometimes occur in adults. Some individuals develop nephrogenic rests (abnormal clumps of cells in the kidneys) which can lead to Wilms tumor, though some with these cell clumps never develop the cancer.
  • Aniridia: Most affected individuals have aniridia, which is the absence of the colored part of the eye (the iris). Typically the first noticeable sign of the syndrome, it can reduce visual acuity and increase sensitivity to light (photophobia). Other eye problems may also develop, including clouding of the lens (cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus).
  • Genitourinary anomalies: Abnormalities of the genitalia and urinary tract are more common in affected males than females. The most common male abnormality is undescended testes (cryptorchidism). Affected females may lack functional ovaries, having undeveloped clumps of tissue called streak gonads instead. Females may also have a heart-shaped (bicornate) uterus, which makes carrying a pregnancy to term difficult.
  • Intellectual disability and developmental delays: Difficulties with processing, learning, and properly responding to information are common. Many affected individuals have trouble speaking or understanding language.
  • Psychiatric and behavioral problems: Some individuals experience depression, anxiety, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or autism spectrum disorder.
  • Other symptoms: Additional signs can include ongoing constipation, inflammation of the pancreas (pancreatitis), kidney failure, breathing problems, allergies, and childhood-onset obesity.

Frequency

The prevalence of WAGR syndrome ranges from 1 in 500,000 to 1 million individuals. It is estimated that one-third of all people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to the syndrome.

Causes & Risk Factors

WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. Because it results from the loss of several neighboring genes, it is described as a contiguous gene deletion syndrome. The size of the deletion varies among individuals, but certain key genes are always affected:

  • PAX6: This gene is always deleted in typical cases. Because changes in PAX6 affect eye development, its loss is believed to cause the characteristic eye features of the disorder. It may also play a role in brain development.
  • WT1: Deletion of the WT1 gene is the likely cause of Wilms tumor and genitourinary abnormalities, as variants in this gene are known to cause these features.
  • BDNF: In individuals with WAGRO syndrome, an additional gene called BDNF is deleted. This gene is active in the brain, supporting nerve cell survival and helping manage eating, drinking, and body weight. Its loss is linked to childhood-onset obesity. Loss of BDNF or nearby genes may also place these individuals at a higher risk for neurological problems like intellectual disability and autism.

Inheritance

Most cases of WAGR syndrome are not inherited. They result from a chromosomal deletion that occurs randomly during the formation of reproductive cells (eggs or sperm) or during early fetal development. Affected individuals typically have no family history of the disorder.

In rare cases, WAGR syndrome is inherited from an unaffected parent who carries a chromosomal rearrangement called a balanced translocation. In this rearrangement, a piece of chromosome 11 is relocated to another chromosome without gaining or losing genetic material. However, this translocation can become unbalanced when passed to the next generation, resulting in a child inheriting a copy of chromosome 11 that is missing a piece of its short arm.

Other Names for This Condition

  • 11p deletion syndrome
  • 11p partial monosomy syndrome
  • WAGR complex
  • WAGR contiguous gene syndrome
  • WAGR spectrum disorder
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
  • Wilms tumor-aniridia-genital anomalies-retardation syndrome
  • Wilms tumor-aniridia-genitourinary anomalies-MR syndrome

Frequently Asked Questions

WAGR syndrome is caused by a deletion of genes on chromosome 11. In most cases, this deletion occurs spontaneously (de novo) and is not inherited from a parent. However, genetic counseling is recommended for families, as there's a small chance a parent could carry a balanced chromosomal rearrangement that increases the risk for future children.
Children with WAGR syndrome require regular, typically every 3 months until age 8, kidney ultrasounds to screen for Wilms tumor. Regular comprehensive eye exams by an ophthalmologist are also crucial to monitor for aniridia-related complications like cataracts, glaucoma, and nystagmus.
The most common eye problem is aniridia, the absence of the iris, which causes reduced vision and light sensitivity (photophobia). Other issues include cataracts (clouding of the lens), glaucoma (increased eye pressure), and nystagmus (involuntary eye movements). Management may involve special glasses or contact lenses for light sensitivity, medications or surgery for glaucoma, and cataract removal when necessary.
Developmental delays are a significant feature, so early intervention is key. This often includes physical therapy for motor skills, occupational therapy for daily living activities, and speech therapy for communication. Educational support and individualized learning plans are also essential to help children reach their full potential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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