Contents

Search

Pendred syndrome (goiter-deafness syndrome)

Epidemiology: - 5-10% of profound hearing loss in children Pathology: - congenital sensorineural hearing loss - associated with thyroid goiter - often associated with a mondini cochlear defect Genetics: 1) autosomal recessive 2) associated with defects in pendrin (SLC26A4) Clinical manifestations: 1) deafness, sensorineural hearing loss 2) goiter 3) malformations of the inner ear (some) Laboratory: - SLC26A4 gene mutation

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM correlations MORBIDMAP 605646

References

  1. OMIM :accession 605646
  2. Wikipedia: Pendred syndrome http://en.wikipedia.org/wiki/Pendred_syndrome
  3. Pendred syndrome http://ghr.nlm.nih.gov/condition=pendredsyndrome - Pendred Syndrome http://www.nidcd.nih.gov/health/hearing/pages/pendred.aspx