How rare is WAGR?
The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million individuals. It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome.
What does WAGR syndrome stand for?
WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range of developmental delays.
Is WAGR syndrome genetic?
WAGR syndrome/11p deletion syndrome is defined as a genetic syndrome in which there is a predisposition to Wilms’ tumor; aniridia; abnormalities of the reproductive and urinary tracts (genitourinary); and intellectual disability.
Can WAGR syndrome be cured?
Treatment may include surgery to remove the kidney, radiation therapy and chemotherapy. Aniridia: The treatment of aniridia is aimed at keeping the person’s vision. Drugs or surgery may help when there is glaucoma or cataracts. Contact lenses can harm the cornea and should be avoided.
What is Potocki Shaffer syndrome?
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11. 2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina.
How is WAGR treated?
All individuals with WAGR syndrome should be routinely screened for high blood pressure and urinary protein. These problems are treated with medications called “ACE inhibitors” or “ARBs.” Some people with WAGR syndrome and renal failure are treated with dialysis or kidney transplant.
Which is the main difference between neuroblastoma and Wilms tumor?
neuroblastoma may invade the kidney; whereas, a Wilms tumor may display exo- phytic growth, calcification, or large lymph node metastases or may cross the midline.
What is the treatment for Wilms tumor?
Treatment for Wilms’ tumor usually involves surgery and chemotherapy, and sometimes radiation therapy. Treatments may vary by the stage of the cancer.
How long can you live with Wilms tumor?
Survival rates for Wilms tumors
| Wilms Tumor 4-year Survival Rates | ||
|---|---|---|
| Tumor Stage | Favorable Histology | Focal Anaplastic |
| I | 95% – 100% | 85% – 90% |
| II | 95% – 100% | 80% – 85% |
| III | 95% – 100% | 75% – 90% |
Is WAGR syndrome dominant or recessive?
Isolated aniridia and WAGR syndrome are inherited in an autosomal dominant manner. Isolated aniridia. ~70% of individuals have an affected parent; ~30% have a de novo PAX6 pathogenic variant or deletion of a regulatory region controlling PAX6 expression.
What happens to a person with WAGR syndrome?
About WAGR Syndrome. WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental retardation.
What does WAGR stand for in medical terms?
The term “WAGR” stands for the first letters of the physical and mental problems associated with the condition: (W)ilms’ Tumor, the most common form of kidney cancer in children. (A)niridia, some or complete absence of the colored part of the eye, called the iris (singular), or irises/irides (plural).
How is WAGR syndrome related to chromosome 11?
The size of the deletion varies among affected individuals. The signs and symptoms of WAGR syndrome are related to the loss of multiple genes on the short arm of chromosome 11. WAGR syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes.
How many Wilms tumors are caused by WAGR syndrome?
It is estimated that one-third of people with aniridia actually have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be attributed to WAGR syndrome. WAGR syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 11.