WAGR/11p deletion syndrome is a condition caused by genetic mutations on the 11th chromosome. It affects more than one gene and the exact mutation can vary between patients, so there are a range of symptoms. The acronym WAGR describes the four most common:
- Wilms’ Tumour – A form of kidney cancer affecting children
- Aniridia
- Genitourinary problems, such as testicles that are not descended or hypospadias (abnormal location of the opening for urination) in boys, or internal genital (such as the vagina, uterus, or ovaries) problems in girls
- Mental Retardation – more commonly described in the UK as learning disability.
A person only has to have two of the above symptoms to be classified as having WAGR/11p deletion syndrome so it may or may not include aniridia. There are other associated symptoms. For more information visit the International WAGR/11p deletion Syndrome Association (IWSA).
Children born with sporadic aniridia are normally offered genetic testing to establish if they may have WAGR/11p deletion syndrome. In particular any mutation in the WT1 gene may indicate a risk of developing Wilms’ Tumour. Regular ultrasound tests during the early years of life can detect signs of Wilms’ Tumour and if caught early treatment is highly successful.
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