Things You Need To Know About Waardenburg Syndrome

Waardenburg syndrome is a rare disease that is known to cause changes in skin, hair and eye coloring. It can also cause hearing loss in some of the people it affects. People with waardenburg syndrome disease are characterised by their white hair, different eye colors in both eyes, or very light blue eyes, almost greyish.

Waardenbyrg Syndrome is classified into 4 different types: type 1 is classified by the person having eyes that are spread far apart than normal, whereas type 2 don’t have eyes that are far apart. Type 3 of people with the waardenburg syndrome disease are identified by deformity of the hands and arms as well as the symptoms of those in the classification of type 1 and 2. Lastly type 4 of waardenburg syndrome is a combination of type 1, 2, and 3 , as well as having a defect in the intestine.

Waardenburg Syndrome

A Patient With Waardenburg Syndrome

The common types of this disease are 1 and 2, while there are not many cases of type 3 and 4. Waardenburg syndrome disease is caused by abnormalities in a gene called PAX3, which is known for helping the body produce pigments, or skin tone agents.

This disease is passed down through inheritance, and sometimes it may occur to people who’s family doesn’t have the waardenburg syndrome disease in their families genetic makeup. Also one copy of the a deformed gene is enough to trigger the waardenburg syndrome in a person. To find out if a person has waardenburg syndrome, a person can take the following tests, genetic, colon, bowel transit, and audiometry tests to see if one has the disease.

There is no specific treatment for the condition, symptoms are usually treated as they appear. For people who have constipation, the necessary prescriptions will be given to help with the problem.Treatment also includes drug therapy, surgery to reconstruct defects,and genetic counsling.

Complications of the waardenburg syndrome disease include the following, loss of hearing,severe constipation in the bowels,and problems with the person’s self esteem because of the person’s looks. A person who has the disease should get medical counseling if the disease runs through their family or they want to have children.

The main problem associated with this disease is loss of hearing, and when it’s treated the person may be able to lead an ordinary life. The waardenburg syndrome disease is a rare disease that is usually treated once the person has proper treatment and the person is well informed about the disease.

If you and a person you know are suspected to to have the disease, seek medical attention so you can get the proper diagnosis because this disease comes in 4 different types.

Same thing goes for the Beckwith-Wiedemann. Is there a cure for beckwith-wiedemann syndrome? Find out by clicking on the link.