Definition:
Waardenburg syndrome is a medical condition characterized by differing degrees of deafness, minor defects in structures which arises from the neural chest and anomalies in skin pigmentation. It is associated with various congenital disorders such as defects in the intestine and spine, elevated scapula and the cleft lip palate.
Diagnosis:
Diagnosis includes examination of the family gene of the person and physical examination inasmuch as the syndrome is seen in the symptoms it manifest. Medical and laboratory examination are also used to confirm the syndrome.
Treatment:
At present there is no known treatment for Waardenburg syndrome. The deafness associated with the medical condition is treated just like any other irreversible deafness. Other effect of the medical condition is treated symptomatically.
Symptoms and Signs:
Symptoms includes complete hetechromia or the difference in the eye color, poliosis the premature graying of the hair, hypertelorism or presence of wide set eyes, moderate to profound hearing impairment, an unusually low hairline and eyebrows.
Causes:
Waardenburg Syndrome is an inherited medical condition. It is inherited in an autosomal dominant pattern where one copy of the altered gene is sufficient to cause the disorder. Usually, it occur in person with a parent with the condition. Most often, the parent of a child who is considered a carrier of the autosomal recessive disorder is not affected (Arias S (1971). "Genetic heterogeneity in the Waardenburg syndrome". Birth Defects Orig. Artic. Ser. 07 (4): 87-101).
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