My Waardenburg syndrome. Leading Cause of Genetic Deafness

Author: Lynda Appell

I have Waardenburg syndrome. My article is about this rare disorder that also consists of
different colored eyes, grey hair from birth and other anomilies.

Well you may be asking yourself, what in the world is Waardenburg and am I spelling it right? Yes I am. It was named after a Dutch ophthmalologisit and many Dutch names have a double A in them. What is most important about  this genetic disorder is it is one of the top major reasons for congenital hereditary hearing loss. Actually there are three kinds of WS. My dad and I have WSII. The most common type is WS I. It is characterized by eyes of different colors. The medical term for this is heterochromatica iridis. That is an iris with two different colors. If the entire iris is one hue and the other is another hue that is heterochromatica heradae. With WSI the eyes are wide apart. Technically a medical canthal displacement. What this basically means is that the space between the inner corners of the eyes is slightly wider than most people’s. There is also premature graying of the hair. At times starting from birth! The incidence of hearing loss is about twenty five percent.

In WSII, the kind I inherited, the difference is the eyes are normally spaced apart. The percentage of people with WSII who are deaf because of the condition is up to sixty percent.
In both forms the nose is small, usually upturned. Lips are full and rosebud shaped.
It is also the only time where blue eyes are dominant. About ninty-five percent of persons with WS have blue eyes. It doesn’t matter if they are Negro, Caucausion, Oriental, etc, practically everyone with the syndrome has blue eyes. Or at least one eye is blue In my father’s family of eight brothers and sisters, six had blue eyes.

It is I think interesting to note that WSI is believed to be caused by the PAX3 gene on I think the second chromosome. This was discovered about five years ago and the geneticists who discovered this received the Nobel prize. Another note of interest and unfortunately a rather negative one is that the gene for WSI is the only gene at least so far discovered that also causes an entirely different condition. In this case a form of cancer called a rabdhosarcoma. A tumor of the connective tissue The hearing defect is of the senseoneural type and hearing aids do help.

By the way, my father is a retired musician. An exclllent site and organization to check out for more information and support for this and most other rare disorders is the National Organization for Rare Disorders

I believe WSII is caused by the MITF gene. Microopthalmic inhibiting transferase factor gene.
For more information, I recommend doing a search on a major search engine or a metasearch for Waardenburg Syndrome. HealthlinkUSA has an excellent page on Waardenburg syndrome.