Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
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?
Along with human beings, this is a problem that is also known to affect ferrets.