Waardenburg Syndrome

Book excerpt: From the Publisher: Waardenburg syndrome often goes undetected and undiagnosed as many healthcare professionals are unaware of this syndrome. This text represents the first publication dedicated entirely to Waardenburg syndrome and is an essential resource for identification, diagnosis, and treatment. It introduces basic genetic concepts, explains the four types of Waardenburg syndrome, and provides practical guidance in recognizing individuals with the syndrome, including color photographs that highlight diagnostic features and incidence of the syndrome in families, testing for hearing, and counseling patients and parents. It then provides a comprehensive plan of action for treating patients, and encourages readers to understand when and how to appropriately refer patients to the craniofacial team for genetic assessment. Resource materials for both clinicians and clients are also included.