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What is WAGR Syndrome?

By M. DePietro
Updated Feb 07, 2024
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WAGR syndrome occurs when chromosome 11 is missing genes. This is considered one of the most rare genetic disorders. Both boys and girls are born with this genetic syndrome. It can cause a variety of symptoms, including mental retardation, problems with the eyes, urinary system problems, and kidney tumors. Not all symptoms develop in all children with the condition.

WAGR is an acronym created by the first letters of the names of various symptoms that can occur with the condition. Wilms tumor is a type of kidney cancer found in children and is one of the main symptoms with WAGR syndrome. About fifty percent of children born with the syndrome develop Wilms tumor.

Aniridia is another symptom of WAGR syndrome. Children with this condition lack the colored part of the eyes. Almost all babies born with WAGR syndrome have this symptom. Additional eye problems can also develop. Cataracts, glaucoma, and possible vision loss can all occur.

Additional problems include genito-urinary symptoms. In some cases of this condition, the opening for urination may be abnormal. In other cases, the testicles do not descended in boys. Girls may also have urinary problems or abnormalities in the genitals.

Mental retardation may also be present with WAGR syndrome. The severity of this symptom varies greatly. Some children may have mild learning delays while others have severe learning problems. Not all children born with WAGR will have mental retardation.

Along with these symptoms, additional problems may also be present in some children with WAGR syndrome. Emotional and behavior problems, such as anxiety may occur. Some children with the syndrome have epilepsy. Obesity and high cholesterol may develop at a young age. Chronic respiratory problems, such as asthma and sleep apnea sometimes develop in children with WAGR.

WARG syndrome is often not detected until after birth. During routine ultrasounds during pregnancy, everything may appear normal. Since the colored part of the eye is absent in most children with WAGR syndrome, that symptom is often spotted at birth. The syndrome is confirmed with a genetic analysis to identify the abnormalities with the 11th chromosome.

Since the condition is genetic and caused by a missing portion of the chromosome, it can not be cured. Instead, symptoms of the syndrome are treated. If a Wilms tumor develops, it can be treated with surgery and chemotherapy. The goal in treating aniridia is preserving vision through surgery if needed. Early intervention programs may be helpful in treating behavior problems and learning delays if they are present.

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