title: [Genetics of congenital deafness].
abstract: Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.
authors.affiliation: Sección de Genética, Departamento de Medicina, Hospital Clínico Universidad de Chile, Santiago, Chile. vfaundes@ug.uchile.cl
authors.forename: Víctor
authors.initials: V
authors.lastname: Faundes
authors.forename: Rosa Andrea
authors.initials: RA
authors.lastname: Pardo
authors.forename: Silvia
authors.initials: S
authors.lastname: Castillo Taucher
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D003638:Deafness / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D019049:Developed Countries; D005817:Genetic Counseling; D005819:Genetic Markers; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D013577:Syndrome
chemical_list: D005819:Genetic Markers