Waardenburg Syndrome is a combination of genetic disorders that are passed down from the parents of an individual. The condition affects hearing, hair color, eye color and even the skin of the person having this disorder. According to American Medical Association (AMA), 1 in 10,000 to 20,000 people are found to have some form of Waardenburg Syndrome. Approximately 2 to 3 percent of children who attend deaf schools have this condition.
Besides hearing loss in one or both ears, visible symptoms develop when a person has this condition. A person carrying the genetic profile of Waardenburg Syndrome will have a white streak in their hair or a portion of their hair turn prematurely gray. The person will have two different color eyes, possible one blue and one brown. A person’s eyes can also display two distinct colors in one eye or have extremely pale blues eyes. The color of a person’s skin are also affected. However, individuals with the syndrome can have different symptoms, even from the same family.
The syndrome has many misconceptions, because it has physical effects, but no real mental effects. The condition is not as severe as other genetic disorders, but does affect a person’s life that has been afflicted with this condition.
The syndrome was originally discovered by a Dutch physician, Dr. Petrus Johannes Waardenburg, who had noticed that many of his patients who had hearing problems also had the syndrome. Waardenburg began a study on 1,000 of those patients and found that they had similar traits that they shared. Since his study, four different types of Waardenburg Syndrome have been identified. Type I and Type II are the most common types of the syndrome that most patients carry.
Type I patients have distinct physical conditions, such as eyes that are spaced wider than average. Also, at least 20 percent of Type I patients have hearing loss. Type II Waardenburg Syndrome is displayed in patients that have average spaced eyes, but many of the other symptoms and at least 50 percent of the Type II patients have hearing loss.
Types III and IV have more severe physical deformities then the other two types. For example, Type III causes the upper limbs of the body to abnormally develop, as well as the pigmentation and hearing problems. Type IV is the most severe, because not only does the patient have Waardenburg Syndrome, but also has Hirschsprung disease. Hirschsprung disease affects the patients intestines. The patient will have intestinal blockages or severe constipation, which cause the patient a lot of discomfort and pain.
Even though most people afflicted with Waardenburg Syndrome live normal lives, but with hearing problems, the individuals are still teased and bullied because of the physical deformities. Another problem that occurs is the identification of the syndrome. Since the symptoms commonly develop over the growth of the child, the syndrome is not identified until the patient is much older.
According to the AMA, the genes that cause this syndrome have been identified. The MITF, EDN3, EDNRB and PAX3 genes are the ones that mutate and can be found in the two different chromosomes. The MITF and PAX3 are the two genes that have been identified as affecting the development of the ear. All the genes cause the development and formation of many other cells, including cells that develop our hair, eye and skin color. These pigment cells are called “melanocytes.” Melanocytes also play a role in the development of the inner ear. If any of these cells mutate during formation, melanocytes are affected, which affect the pigmentation of the eyes, hair, skin and hearing development.
Waardenburg Syndrome is an inherited syndrome. One copy of the mutated gene is passed down to the child from one parent. Some afflicted parents can pass on both mutated genes and a more severe type of the syndrome will develop in the child. Very rarely is the syndrome passed down from a parent or parents that have never had a history of the syndrome.
As of the time of this publication, there is no treatment for Waardenburg Syndrome and since the condition is primarily a development condition, few medical researchers spend time on treatments for this disorder. Any parent that already has been identified with the condition can have genetic counseling. Genetic counseling can help a parent with this disorder decide whether to have children or not. However, very little is known about the condition, so most of this information being given to the parents is sketchy at best.
The disorder is considered a benign condition, since most people afflicted with Waardenburg Syndrome will not have any hearing loss. Because of this benign condition, researchers spend more time on researching the genes and not for a cure of the disorder. The study of the genes that cause this syndrome provides the researchers with a better understanding on how humans, as well as other mammals, develop.