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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?
Doing an audiological test is recommended and it would be conducted at an ENT or relevant doctors.
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?
Complications may include:
• Constipation severe enough to require part of large bowel to be removed
• Hearing loss
• Self-esteem problems, or other problems related to appearance
• Slight decreased intellectual functioning (possible, unusual)
• Slight increased risk for muscle tumor called rhabdomyosarcoma