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WAGR Syndrome

  WAGR Syndrome


Summary

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 Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range 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 genetic change inherited.

SYMPTOMS

Symptoms of this disease may start to appear as a Newborn.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.

CAUSES

WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals. The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 

DIAGNOSES

How is WAGR syndrome diagnosed? Symptoms that suggest WAGR syndrome, like aniridia, are usually noted shortly after birth, and genetic testing for the 11p13 deletion is done. A genetic test called a chromosome analysis or karyotype is done to look for the deleted area (11p13) on chromosome number 11.

TREATMENT

Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for Early Intervention Services soon after they are born, or when the diagnosis is made. Treatments include: vision therapy, physical, occupational and speech therapies.

TYPE OF DOCTOR AND DEPARTMENT : Paediatrics SPECIALIST CAN DIAGNOSE THIS DISEASE.


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