Deafness and Hereditary Hearing Loss Overview - GeneReviews™ - NCBI Bookshelf Page 1 of 25 NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Bookshelf ID: NBK1434 PMID: 20301607 Deafness and Hereditary Hearing Loss Overview Richard JH Smith, MD Department of Otolaryngology University of Iowa Hospitals and Clinics Iowa City, Iowa
[email protected] A Eliot Shearer Department of Otolaryngology University of Iowa Hospitals and Clinics Iowa City, Iowa
[email protected] Michael S Hildebrand, PhD Department of Otolaryngology University of Iowa Hospitals and Clinics Iowa City, Iowa
[email protected] Guy Van Camp, PhD Department of Genetics University of Antwerp Antwerp, Belgium
[email protected] Initial Posting: February 14, 1999; Last Revision: January 5, 2012. Summary Disease characteristics. Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). Diagnosis/testing. Genetic forms of hearing loss must be distinguished from acquired (non-genetic) causes of hearing loss. The genetic forms of hearing loss are diagnosed by otologic, audiologic, and physical examination, family history, ancillary testing (e.g., CT examination of the temporal bone), and molecular genetic testing. Molecular genetic testing, available in clinical laboratories for many types of syndromic and nonsyndromic deafness, plays a prominent role in diagnosis and genetic counseling.