WAGR Syndrome (11p13)

1. Causes of the disease

WAGR syndrome is a genetic disorder caused by the deletion of genes in the short arm of chromosome 11 (11p13). Deficiencies in genes in this region, such as WT1 and PAX6, can cause tumors, eye abnormalities, and developmental delays.

2. Symptoms

• Wilms tumor (kidney tumor) : A cancer that begins in a child’s kidney and is often diagnosed early.
• Aniridia : Absence of the iris causes impaired vision.
• Reproductive and urinary abnormalities : Underdevelopment of the reproductive organs and abnormalities of the urinary system are seen.
• Intellectual disability and developmental delay : There may be delays in language and motor skills.

3. Treatment

• Treating kidney tumors : Surgery and chemotherapy may be used.
• Vision support : Vision management and surgery may be performed.
• Developmental support : Therapeutic support such as physical therapy and speech therapy is provided.

4. Prognosis

Early diagnosis and treatment may improve kidney tumors and vision problems. With proper medical management, quality of life can be improved, but prognosis varies depending on the severity of symptoms.

5. The burden on parents

The burden of medical management and rehabilitation is large, and financial and psychological support is often required. It is important to cooperate with local support services and specialists.