Tucker Grose- Waardenburg Syndrome

Waardenburg syndrome is an inherited disorder usually characterized by varying degrees of hearing loss and changes in skin and hair coloring. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenburg who noticed in 1947 that people with differently colored eyes often had a hearing problem. He went on to study over a thousand individuals who had hearing problems and discovered that some of them had certain physical characteristics in common.
One common characteristic of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other is blue. Sometimes, one eye has two different colors. Other individuals with Waardenburg syndrome may have unusually bright blue eyes.
People with Waardenburg Syndrome may also have distinctly different hair coloring, such as a patch of white hair or premature gray hair as early as age 12. Other possible physical features include a wide space between the eyes called a broad nasal root. In addition persons with Waardenburg Syndrome may have low hairline in the front and their eyebrows may connect. The levels of hearing loss connected with the syndrome can vary from moderate to profound.
People with Waardenburg syndrome may have some or all of the traits of the syndrome. For example, a person with Waardenburg Syndrome may have a white forelock, a patch of white hair on the forehead, and no hearing impairment. Others may have white patches of skin and bad hearing problems. The severity of the hearing impairment changes among the cases of Waardenburg Syndrome as do the changes in the skin and hair.
On rare occasions, Waardenburg Syndrome has been associated with other conditions that are found at birth, like intestinal disorders, lifted shoulder blade, and problems in the spine. The cleft lip is another disorder that has been seen as one of the traits connected with Warrensburg Syndrome.
Scientists have found four different genes for Waardenburg syndrome they are, PAX3, MITF, EDNRB, and EDN3. Waardenburg Syndrome type 1 and 3 has a mutation in the PAX3 gene; While Waardenburg type 2 is connected with the MITF gene, and type 4 with the EDNRB and EDN3 genes. Types 1 and 2 are autosomal dominant conditions, while type 4 can be autosomal recessive or autosomal dominant inheritance.
Waardenburg Syndrome symptoms are hearing loss and partial albinism. It affects both males and females, and people of all ethnic backgrounds. It is estimated to occur in 1 of 42,000 individuals. There are no treatments or cures, only hearing aides, which can help the deafness or loss of hearing. Waardenburg is a genetic disorder so there is no prevention.