About WAGR Syndrome/11p Deletion Syndrome

What is WAGR Syndrome/11p Deletion Syndrome?

WAGR Syndrome (also known as 11p Deletion Syndrome) is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 11. It is characterized by a combination of physical, developmental, and behavioral problems, including Wilms tumor (a type of kidney cancer), Aniridia (absence of the colored part of the eye), Genitourinary anomalies (abnormalities of the reproductive and urinary systems), and intellectual Disability (mental retardation). Other features may include seizures, autism, and/or learning disabilities.

What are the symptoms of WAGR Syndrome/11p Deletion Syndrome?

The most common symptoms of WAGR Syndrome/11p Deletion Syndrome include:

-Developmental delays
-Intellectual disability
-Learning disabilities
-Behavioral problems
-Seizures
-Vision problems
-Hearing loss
-Kidney abnormalities
-Heart defects
-Growth delays
-Feeding difficulties
-Speech delays
-Cleft lip/palate
-Urogenital abnormalities

What are the causes of WAGR Syndrome/11p Deletion Syndrome?

WAGR Syndrome/11p Deletion Syndrome is caused by a deletion of genetic material on the short arm of chromosome 11. This deletion can be inherited from a parent or can occur spontaneously. The exact cause of the deletion is unknown, but it is believed to be due to a random error in cell division.

What are the treatments for WAGR Syndrome/11p Deletion Syndrome?

The treatments for WAGR Syndrome/11p Deletion Syndrome vary depending on the individual and the severity of the symptoms. Generally, treatment focuses on managing the physical, developmental, and psychological issues associated with the syndrome. This may include physical therapy, occupational therapy, speech therapy, and psychological counseling. Surgery may be necessary to correct certain physical abnormalities, such as kidney malformations or eye problems. Medications may be prescribed to help manage seizures, attention deficit hyperactivity disorder (ADHD), and other behavioral issues. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

What are the risk factors for WAGR Syndrome/11p Deletion Syndrome?

1. Uniparental disomy (UPD) of chromosome 11
2. Maternal inheritance of a chromosomal deletion
3. Maternal inheritance of a chromosomal duplication
4. Paternal inheritance of a chromosomal deletion
5. Paternal inheritance of a chromosomal duplication
6. De novo (new) chromosomal deletion
7. De novo (new) chromosomal duplication
8. Structural rearrangement of chromosome 11
9. Maternal advanced maternal age
10. Advanced paternal age
11. Family history of WAGR Syndrome/11p Deletion Syndrome

Is there a cure/medications for WAGR Syndrome/11p Deletion Syndrome?

There is no cure for WAGR Syndrome/11p Deletion Syndrome, but there are medications and treatments available to help manage the symptoms. These include medications to help with kidney problems, hormone replacement therapy, and surgery to correct physical abnormalities. Additionally, physical, occupational, and speech therapy can help with developmental delays.