What is Waardenburg syndrome?
Waardenburg syndrome is a rare genetic state associated with deafness and changes in hair, skin and eye pigmentation. There are a number of different variants on Waardenburg syndrome, including a number of genes, including Klein-Waardenburg syndrome and Shah-Waardenburg syndrome. In most cases, people with this condition have a family history of symptoms, although sometimes they can become spontaneous mutations. Many people with this condition have an unusual face structure, with features such as a wide nasal bridge, low hairline, wide -angle eyes and face asymmetry. The deaf or loss of hearing in one or both ears is another characteristic feature of Waardenburg syndrome. The white stripe in the hair is common, as well as premature grayness and some patients have white or otherwise faded skin stains. Waardenburg's syndrome can also be accompanied by intestinal defects, split lip and floor and abnormalities of the spine, depending on which genes are included, although these changes are rare.
The condition is named after the Dutch ophthalmologist of the 20th century, which identified it after noting that unusual changes in eye color were often associated with hearing loss in his patients. Research has shown that Waardenburg's syndrome appears to be a dominant feature that includes more genes, in this case children often inherit it, but have a slightly different presentation than their parents.
Like many inherited conditions, Waardenburg's syndrome is not caused by what their parents had or did not do. It cannot be cured even if it can be done. Management may include surgery for correct physical abnormalities, along with accommodation for deafness and hearing loss. People with a family history may want to meet a genetic advisor before they have children to discuss potential risks and get complete evaluation.
The severity of Waardenburg syndrome may vary considerably. It is appropriate in diagnosisComplete a thorough evaluation and learn more about the specifics of the individual case and the participating genes. This will also provide the opportunity to identify problems that may not be easily obvious, such as changes in the intestinal structure that could lead to obstacles and other health problems in the future.