Abstract
Abstract Usher syndrome is the most commonly occurring disorder in this category. Patients with this syndrome have sensorineural hearing loss and loss of vision due to retinitis pigmentosa. Estimates of its prevalence among profoundly deaf children range from 3% to 8%. In addition to their association with eye disease and hearing loss, some syndromes discussed in this chapter involve the nervous system while others involve different, sometimes multiple, systems. For example, Refsum syndrome and Alstrom syndrome could have been assigned to Chapters 12 or 13, Endocrine and Metabolic Disorders. Gordon syndrome is included in Chapter 10 on genetic hearing loss associated with nervous system disorders. The IVIC syndrome might easily have been assigned to Chapter 8, Genetic Hearing Loss Associated with Musculoskeletal Disorders, but it seemed best to include the syndrome here.
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