User:Mr. Ibrahem/11p deletion syndrome

11p deletion syndrome, previously known as WAGR syndrome, is genetic disorder in which people are at risk of Wilms tumor (a type of kidney cancer), aniridia (absence of the colored part of the eye), genitourinary abnormalities such as undescended testicles, and mental retardation. Other symptoms may include light sensitivity, cataracts, childhood obesity, pancreatitis, and kidney failure. Intellectual disabilities are generally in the mild to moderate range.

The cause is the deletion of genetic material on the short arm of chromosome 11. Most cases occur spontaneously during early development, though rarely it may be inherited from a parent. What is missing is a group of genes, including PAX6 and WT1, that sit next to each other. If the BDNF gene is also involved obesity occurs. Diagnosis is generally suspected based on examination at birth and confirmed by karyotyping.

Treatment is based on symptoms. Wilms' tumor is generally treated with surgery and chemotherapy, intellectual disabilities may be supported by special education, and kidney problems may be managed with ACE inhibitors or a kidney transplant. It is believed that life expectancy is reduced, but it is not clear by how much.

WAGR syndrome affects between 1 in 500,000 to 1 in a million people. Males are affected more often than females. The condition was first described by Miller in 1964. The associated genetic abnormality was discovered in 1978 by Riccardi.