What is the World is WAGR Syndrome?

W.  A.  G.  R.

WAGR syndrome is an extremely rare genetic disorder caused by a sporadic deletion on the eleventh chromosome. The name is an acronym standing for Wilm’s tumor, Aniridia, Genito-urinary anomalies, and Range of developmental delays.

Wilm’s tumor is a form of childhood kidney cancer. Typically, it is a pretty aggressive form and masses can grow rapidly. WAGR kids have about a 50 percent chance of developing a tumor. Of course, that means not all kids with WAGR get wilm’s tumors. They all do go through regular kidney scans to watch for the formation of a tumor.

You can see her eyes look solid black but really they have no color a all.

Aniridia is a rare eye condition where a person is born with no iris or color part of the eye. In 75 percent of cases, it is a hereditary disorder and usually has very few other issues beyond light sensitivity and visual impairment. The other 25 percent, have the deletion and WAGR syndrome. Tehre are many other eye conditions that can accompany aniridia, including cataracts, glaucoma, nystagmus (eyes bouncing), or optic nerve hypoplasia (under developed optic nerve).

Genito-urinary anomalies is basically a fancy name for abnormalities in the groin area. This would include kidneys, bladder, reproduction organs, or infertility. For boys, a common abnormality is hypospadias or undescended testes. Girls deal with streak ovaries commonly.

The “R” used to stand for retardation but it has been changed to Range of developmental delays to be less offensive. I personally prefer the range of developmental delays better because it better portrays the fact that no one case is exactly the same and that it is a range and not a set issue. It also encompasses more with the developmental delays which could be speech or gross motor and not affect the child’s ability to learn.

WAGR can also include so many other little concerns and health issues. We have heard a lot of kids struggle with sleep, respiratory system issues, and behavioral problems. Many kids have an additional deletion that includes another gene that causes a predisposition to obesity. For more information on WAGR syndrome, www.wagr.org is the website to visit.

www.wagr.org 

Unfortunately, since the disorder is so rare, there are no WAGR specialists and most doctors have never heard of the disorder. The parents end up having to become the experts on the disorder. It’s not easy and I learn new stuff about what to expect every day.