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The term Waardenburg Syndrome is also called Waardenburg Shah Syndrome or Waardenburg-Klein syndrome, which is defined as a rare genetic disorder most often characterized by different levels of deafness. In many cases, the problem is present from birth and would include symptoms like minor defects in structures arising from the neural crest. Such individuals would also have pale skin and blue eyes of different colors and they are prone to hearing loss and issues.
HOW IS WAARDENBURG SYNDROME DIAGNOSED?
Waardenburg syndrome (WS) may be diagnosed at birth or early childhood (or, in some cases, at a later age) based upon a thorough clinical evaluation, identification of characteristic physical findings, a complete patient and family history, and various specialized studies. Additional diagnostic studies may be conducted to help detect or characterize certain abnormalities potentially associated with WS may include CT scan and x-rays.
HOW IS WAARDENBURG SYNDROME TREATED?
There is no specific treatment. Symptoms will be treated as needed. Special diets and medicines to keep the bowel moving are prescribed to those people who have constipation. Hearing should be checked closely.
DID YOU KNOW?
There are 4 main types of Waardenburg syndrome. The most common are type I and type II. Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are rarer.