What’s WAGR Syndrome?

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WAGR syndrome is a rare genetic disease caused by a missing portion of chromosome 11. Symptoms include mental retardation, eye problems, urinary system problems, kidney tumors, and more. It cannot be cured, but symptoms can be treated.

WAGR syndrome occurs when chromosome 11 lacks genes. This is considered one of the rarest genetic diseases. Both boys and girls are born with this genetic syndrome. It can cause a variety of symptoms, including mental retardation, eye problems, urinary system problems, and kidney tumors. Not all symptoms develop in all children with this condition.

WAGR is an acronym created from 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 of 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 parts of their eyes. Almost all children born with WAGR syndrome have this symptom. Further eye problems may also develop. Cataracts, glaucoma, and possible vision loss may occur.

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

Mental retardation can also be present with WAGR syndrome. The severity of this symptom varies widely. Some children may have mild learning delays while others have severe learning disabilities. 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 behavioral problems, such as anxiety, can occur. Some children with the syndrome have epilepsy. Obesity and high cholesterol can develop at a young age. Chronic breathing 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 look normal. Because the colored part of the eye is absent in most children with WAGR syndrome, that symptom is often detected at birth. The syndrome is confirmed with a genetic analysis to identify abnormalities with the 11th chromosome.

Since the condition is genetic and caused by a missing portion of the chromosome, it cannot be cured. Instead, the symptoms of the syndrome are treated. If Wilms’ tumor develops, it can be treated with surgery and chemotherapy. The goal in treating aniridia is to preserve vision through surgery if needed. Early intervention programs can be helpful in treating behavioral problems and learning delays, if any.

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