Hearing loss affects 1–3 children in every  1000 [1]–[3]. Hearing loss is often caused by genetic defects that impair the development of proteins in the hearing pathway. It can be classified as nonsyndromic or syndromic. Nonsyndromic hearing loss, not characterized by other signs and symptoms, affects 70% of patients. Syndromic hearing loss occurs when other organ abnormalities are present, such as effects on the kidneys, eyes, or heart [2]. Over 400 syndromes associated with hearing loss demonstrate different phenotypic and genetic heterogeneity [4], [5].

First discovered in 1896 by doctor Vaughan Pendred, Pendred Syndrome (PS) is a form of syndromic hearing loss accounting for 4% of hereditary deafness [6], [7]. PS is characterized by sensorineural hearing loss, inner ear malformation, vestibular dysfunction, thyroid and temporal bone abnormalities, and abnormal organification of iodide. It is an autosomal-recessive disorder that is caused by rare inherited germline mutations in one of three genes: SLC26A4, FOXL1, and KCNJ10 [8], [9].

Pendred Syndrome is a form of syndromic hearing loss characterized by sensorineural hearing loss, inner ear malformations, and irregularities of the thyroid and temporal bone. Pendred Syndrome is predominantly caused by genetic mutations in SLC26A4, but FOXL1 and KCNJ10 may also be involved.  Treatment involves using cochlear implantation to target hearing loss, which is associated with positive outcomes. Treatments for other effects of Pendred Syndrome include anticholinergics or benzodiazepines to treat vertigo and levothyroxine for hypothyroid patients. This review compiles the most recent information about Pendred Syndrome, and it provides a summary of the etiology, pathogenesis, and physical effects of the disorder.