J Pediatr Genet 2018; 07(01): 001-008
DOI: 10.1055/s-0037-1617454
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

John D. Gettelfinger
1  Department of Otolaryngology – Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States
,
John P. Dahl
1  Department of Otolaryngology – Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States
› Author Affiliations
Funding None.
Further Information

Publication History

21 September 2017

29 November 2017

Publication Date:
04 January 2018 (eFirst)

Abstract

Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF.