It is considered the most common form of syndromic hearing loss and accounts for upwards of 10% of hereditary deafness.
There is an autosomal recessive pattern inheritance, although this appears complex with most patients being compound heterozygotes. Variations in one gene (SLC26A4) which encodes for the protein pendrin, is found in ~50% of patients with this syndrome although multiple other genes (e.g. FOXI1, KCJN10) have been implicated 3.
Inner ear malformations are an invariable finding in Pendred syndrome. The most commonly described features are the following 1:
- modiolus deficiency
- vestibule enlargement
- vestibular aqueduct enlargement: see large vestibular aqueduct syndrome
- absent interscalar septum
Other associated malformations include:
- cochlear dysplasia/hypoplasia or Mondini malformation: common but not a constant feature 2,3
History and etymology
It was first described by Vaughan Pendred (1869–1946) in 1896 1,4.
- 1. Goldfeld M, Glaser B, Nassir E et-al. CT of the ear in Pendred syndrome. Radiology. 2005;235 (2): 537-40. Radiology (full text) - doi:10.1148/radiol.2352031583 - Pubmed citation
- 2. Phelps PD, Coffey RA, Trembath RC et-al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol. 1998;53 (4): 268-73. Pubmed citation
- 3. Alasti F, Van Camp G, Smith RJH. Pendred Syndrome/DFNB4. 1998 Sep 28 [Updated 2014 May 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1467/
- 4. Pearce JM. Pendred's syndrome. (2007) European neurology. 58 (3): 189-90. doi:10.1159/000104724 - Pubmed