WAGR Syndrome
What is WAGR Syndrome?
WAGR syndrome (aka 11p deletion syndrome) is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and a range of developmental delays.
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)
- (G)enitourinary problems, such as testicles that are not descended or hypospadias (abnormal location of the opening for urination) in boys, or genital or urinary problems inside the body in girls
- (R)ange of developmental delays. Most people who have WAGR syndrome have two or more of these conditions. Also, people can have WAGR syndrome, but not have all of the above conditions.
What are the symptoms of WAGR Syndrome?
The symptoms of WAGR syndrome are usually seen after the baby is born, although enlargement of the baby’s kidneys may be seen on a prenatal ultrasound.
The eye problems (aniridia) are usually noticed in the newborn period, and for infant boys, the problems with the genitals and urinary systems are also usually obvious in the newborn period.
Individuals born with WAGR syndrome are at higher risk for developing other problems during infancy, childhood, and adulthood. These problems can affect the kidneys, eyes, testes or ovaries. The specific symptoms that happen in a person who has WAGR syndrome depend on the combination of disorders that are present.
Other symptoms include:
- Wilms’ tumor
- Aniridia
- Genital and urinary problems
- Range of developmental delays
What causes WAGR Syndrome?
WAGR syndrome/11p deletion syndrome is known as a “contiguous gene syndrome”, meaning that it is caused by mutations of adjacent genes on a particular chromosome.
In many affected individuals, the syndrome is thought to result from deletion of one copy of chromosome 11 at band p13 (monosomy).
How is WAGR Syndrome diagnosed?
Symptoms that suggest WAGR syndrome, like aniridia, are usually noted shortly after birth, and genetic testing for the 11p13 deletion is done.
A genetic test called a chromosome analysis or karyotype is done to look for the deleted area (11p13) on chromosome number 11.
A more specific genetic test called FISH (fluorescent in situ hybridization) is sometimes done to look for the deletion of specific genes on chromosome number 11.
What treatments are available for WAGR Syndrome?
Treatment of WAGR syndrome is aimed at the specific symptoms present in the individual, not WAGR as a whole.
Monitoring to look for problems is also important to catch problems early so that treatment can be given as soon as possible.
Where can I find out more about WAGR Syndrome?
here can I find out more about Li-Fraumeni Syndrome (LFS)?
