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Pendred syndrome
Background
Pendred syndrome: goiter-deafness syndrome: deafness with goiter
Pendred syndrome (PS) was clinically recognized in 1896 by Vaughan Pendred. A century later, the gene for this condition was discovered by Coyle, Sheffield and colleagues.
PS is characterized by sensorineural (sense perception mediated by nerves) hearing loss, developmental abnormalities of the cochlear (part of the inner ear concerned with hearing and balance), and goiter (enlargement of the thyroid in the front of the neck). Individuals and families are affected differently by the severity of their symptoms; goiter is a particularly variable feature.
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