National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pendred syndrome


Other Names:
PDS; Deafness with goiter; Goiter-deafness syndrome; PDS; Deafness with goiter; Goiter-deafness syndrome; Autosomal recessive sensorineural hearing impairment and goiter See More
Categories:
Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.[1][2][3]
Last updated: 11/24/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 20 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Enlarged vestibular aqueduct 0011387
Hypoplasia of the cochlea 0008586
Sensorineural hearing impairment 0000407
30%-79% of people have these symptoms
Goiter
Enlarged thyroid gland in neck
0000853
Hypothyroidism
Underactive thyroid
0000821
5%-29% of people have these symptoms
Ataxia 0001251
Hyperparathyroidism
Elevated blood parathyroid hormone level
0000843
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Nephropathy 0000112
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Respiratory insufficiency
Respiratory impairment
0002093
Thyroid carcinoma 0002890
Tracheal stenosis
Narrowing of windpipe
0002777
Vertigo
Dizzy spell
0002321
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ] 		0001939
Autosomal recessive inheritance 0000007
Cochlear malformation 0008554
Compensated hypothyroidism 0008223
Congenital sensorineural hearing impairment 0008527
Vestibular dysfunction 0001751
Showing of 20 |
Last updated: 7/1/2020
Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to not be a carrier and not have the condition.

Pendred syndrome can be caused either by having mutations in both copies of the SLC26A4 gene (more commonly), or by having one mutation in the SLC26A4 gene and one mutation in another gene.[3]
Last updated: 12/1/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes congenital cytomegaloviral infection (cCMV), BOR syndrome, and deafness at the DFNX2 locus (POU3F4).
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pendred syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I am affected with this condition. I would like to know when I have children, will they be affected? See answer


  1. Fatemeh Alasti, Guy Van Camp, and Richard JH Smith. Pendred Syndrome/DFNB4. GeneReviews. May 29, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1467/. Accessed 11/24/2014.
  2. Pendred syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/pendred-syndrome.
  3. Richard Smith. Pendred syndrome. Orphanet. July, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705. Accessed 11/24/2014.