What Is Pendred Syndrome? Pendred syndrome, caused by mutations in the SLC26A4 gene, is an inherited condition in which the body's ability to make a protein called pendrin is impaired. Pendrin plays an essential role in normal functions of the inner ear and thyroid. Individuals with Pendred syndrome experience profound deafness that is usually present from birth, though severity can vary. Some individuals with Pendred syndrome may lose their hearing rapidly in infancy or early childhood, while moderate hearing loss may not worsen over time in other individuals. Typical inner-ear malformations in individuals with Pendred syndrome may also affect one's balance. Some individuals may also experience an abnormal enlargement of the thyroid (also known as a goiter) which can present itself as a large swelling at the base of the neck. This symptom is usually secondary to a diagnosis of hearing loss and can happen at any time throughout one's life. While thyroid function is usually not affected by Pendred syndrome, goiters can disrupt swallowing and breathing due to pressure placed on the esophagus and windpipe. How Common Is Pendred Syndrome? The frequency of Pendred syndrome is unknown, but some researchers believe it may be the cause of up to 10% of infant deafness. How Is Pendred Syndrome Treated? Treatment for Pendred syndrome addresses hearing loss early in life, including hearing aids for children with the condition. Cochlear implants show promise for restoring some hearing to individuals with severe to profound deafness. Children should receive special educational programs for the hearing impaired. Breathing or swallowing difficulties caused by goiters may be treated using radioactive iodine to shrink the swelling. Surgical removal of all or part of the thyroid may also be an option. What Is the Prognosis for an Individual with Pendred Syndrome? Pendred syndrome causes moderate to profound hearing loss but does not affect lifespan. Other names forPendred syndrome Autosomal recessive sensorineural hearing impairment and goiter DFNB 4 nonsyndromic hearing loss and deafness DFNB4 Deafness with goiter Goiter-deafness syndrome Pendred syndrome/DFNB4 Pendred's syndrome SLC26A4-related Pendred syndrome References Alasti et al., 2014, https://www.ncbi.nlm.nih.gov/books/NBK1467/ Bizhanova et al., 2010, Mol Cell Endocrinol, 322(1-2):83-90, PMID: 20298745 Coyle et al., 1998, Hum Mol Genet, 7(7):1105-12, PMID: 9618167 Online Mendelian Inheritance in Man, OMIM , 2016, https://www.omim.org/entry/274600 Wu et al., 2015, PLoS ONE, 10(9):e0138575, PMID: 26397989 Resources American Society for Deaf Children The American Society for Deaf Children is a non-profit association offering resources, support, advocacy, and education for parents of deaf children. Address: 3820 Hartzdale Drive Camp Hill, PA 17011 Phone: 717-703-0073 (866) 895-4206 Hearing Loss Association of America The Hearing Loss Association of America is a non-profit advocacy organization that lobbies to affect public policy to support people with hearing loss. Address: 7910 Woodmont Ave., Suite 1200 Bethesda, MD 20814 Phone: 301-657-2248 National Association of the Deaf The National Association of the Deaf is a non-profit organization dedicated to fighting discrimination against people with hearing loss and helping them participate fully in the community. Address: 8630 Fenton St., Suite 820 Silver Spring, MD 20910 Phone: 301-587-1788 Genetics Home Reference The Genetics Home Reference offers explanations of an extensive number of genetic diseases, written for everyday people by the U.S. government's National Institutes of Health.