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Waardenburg Syndrome is the name given to a group of conditions that is passed down through families. Waardenburg Syndrome commonly causes deafness and paleness of skin, hair and eye color. Symptoms of Waardenburg Syndrome are:
• Cleft lip
• Extremely pale blue eyes
• Pale color of skin
• Difficulty in straightening joints
• Slight decrease in intellectual function
• White patch of hair or early graying
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?
The treatment of WS is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in skin disorders (dermatologists), eye specialists (ophthalmologists), hearing specialists, physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists), physicians who specialize in diseases of the digestive tract (gastroenterologists), speech-language pathologists, physical therapists, and/or other healthcare professionals.
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