WAGR Syndrome - 11p Deletion Syndrome is a rare genetic disorder caused by the deletion of a segment of chromosome 11. It is estimated to occur in approximately 1 in 500,000 to 1 in 1,000,000 live births. The syndrome is characterized by several features including Wilms tumor (a kidney cancer), aniridia (absence of the iris), genitourinary anomalies, and intellectual disability. Early diagnosis and intervention are crucial for managing the various aspects of this syndrome. Genetic counseling and regular medical follow-up are recommended for individuals with WAGR Syndrome.
WAGR Syndrome - 11p Deletion Syndrome Prevalence:
WAGR Syndrome, also known as 11p Deletion Syndrome, is a rare genetic disorder that affects multiple systems in the body. It is estimated to occur in approximately 1 in 500,000 to 1 in 1,000,000 live births. Although it is considered a rare condition, the exact prevalence of WAGR Syndrome is difficult to determine due to its rarity and the wide range of symptoms and severity.
WAGR Syndrome is characterized by the deletion of a small piece of chromosome 11, which leads to a variety of physical and developmental abnormalities. The acronym WAGR stands for Wilms tumor, Aniridia, Genitourinary anomalies, and intellectual Retardation, which are some of the key features associated with this syndrome.
Individuals with WAGR Syndrome have an increased risk of developing Wilms tumor, a type of kidney cancer, during childhood. Aniridia, the absence of the iris in the eye, is another common feature of this syndrome. Genitourinary anomalies, such as abnormalities in the urinary tract or genitalia, and intellectual disability are also frequently observed.
Early diagnosis and appropriate medical management are crucial for individuals with WAGR Syndrome to optimize their health outcomes. Genetic counseling and regular screenings for associated conditions are recommended for affected individuals and their families.