Strange and Unusual Diseases: Waardenburg Syndrome

Named for Dutch opthalmologist Petrus Johannes Waardenburg, this syndrome was discovered when Waardenburg noted that people who had two differently-colored eyes had a higher frequency of hearing problems. With further study, several other dominant characteristics could also be found in those who suffered from this condition. Waardenburg Syndrome (WS) is a rare hereditary disease, affecting only a small number of our population.

What is Waardenburg Syndrome?

After intense study, it has been determined that Waardenburg Syndrome is caused by one of four different genes - PAX3, MITF, EDN3 and EDNRB. The condition is dominant, meaning it can be passed down from a single parent, regardless of whether or not the other parent carries similar traits. There is a 50/50 chance that a parent who has WS will pass it on to their children. WS affects roughly 1 in every 10,000-20,000 people.

There are several different types of WS and families that carry this abnormality often show different generations that inherit at least one of the features of this disease. Type I is mainly characterized by a displacement of the eyelid fold. Type II, on the other hand, does not show the eyelid fold but has a higher propensity for deafness. Waardenburg Syndrome varies from person to person, with some individuals only showing one or two traits, while others will have all of the traits relative to this condition.

Type III Waardenburg Syndrome is also known as Klein-Waardenburg Syndrome and people with this variety often experience abnormalities in their upper limbs as well as hearing loss, depigmentation and other symptoms. In cases of Type IV WS (Waardenburg-Shah Syndrome), the patient may also exhibit symptoms of Hirschsprung Disease, causing severe constipation and intestinal blockages.

Diagnosing Waardenburg Syndrome

There are several physical characteristics that may or may not be seen in people with Waardenburg Syndrome. Sometimes, people who have this condition have brilliantly blue irises, different colored eyes (a blue eye and a brown eye, for instance), or they may even have an eye that is two different colors. Additionally, they may experience skin depigmentation, causing patches of vividly white skin, in contrast with the rest of their body.

Patients with WS often have a wider nasal bridge (the space between the eyes) and a joining of the eyebrows (unibrow) is not uncommon. One striking feature that many people with WS have are a shockingly white forelock. People with Waardenburg Syndrome may also be prone to going prematurely gray, sometimes even during the pre-teen years.

The other symptom that is common amongst people with WS is a higher occurrence of hearing loss and/or deafness. In fact, roughly 2-3% of children enrolled in schools for the deaf have this condition. Of course, not all who are diagnosed with WS are deaf either.

At this time, the best way of testing for WS is through genetic testing. Hearing tests may be performed to determine possible hearing loss and a colon biopsy or bowel transit time test may be performed in those suspected of having one of the more rare varieties of Waardenburg Syndrome.

Treating Waardenburg Syndrome

Fortunately, after the original diagnosis, most people who have WS go on to lead a normal and healthy life. Medications to relieve pain or special diets can be helpful for those who suffer from constipation and hearing deficits may require hearing aids or special schooling but, otherwise, Waardenburg Syndrome should not adversely affect a person's life.

While there is no cure at this time, researchers continue to study the four gene abnormalities that are responsible for this condition.

Sources:

Own experience - Discussing with my mother about her uncle, who exhibited some of the symptoms of WS
http://www.nidcd.nih.gov/health/hearing/waard.asp - Information on WS
http://ghr.nlm.nih.gov/condition/waardenburg-syndrome - Information on WS testing
http://www.hon.ch/HONselect/RareDiseases/EN/C16.131.077.938.html - Further info on WS