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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial thyroglossal duct cyst


Other Names for this Disease
  • Hereditary thyroglossal duct cysts
  • Thyroglossal duct cysts
  • Thyroglossal duct cysts familial
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Overview

Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population.[1] They usually present in children, around 6 years of age, but rarely, they may present in adulthood.[2] They present as a painless, palpable mass that develops around the midline and moves with swallowing. Other symptoms might include: fluctuation in size of mass, dysphagia, infection of mass, and mid-neck tenderness.[1] TDCs are caused by abnormal development of the thyroid gland in fetal development.[2] The cause of this abnormal development is largely not known and usually sporadic; however, in rare circumstances TDCs can be inherited. Familial TDC are commonly inherited in an autosomal dominant pattern with rare reports of autosomal recessive inheritance.[3][4] Treatment involves surgery to remove the cyst (mass).[1]
Last updated: 5/17/2016

References

  1. Chrysostomos Kepertis,Kleanthis Anastasiadis,Vassilis Lambropoulos,Vassilis Mouravas,Ioannis Spyridakis. Diagnostic and Surgical Approach of Thyroglossal Duct Cyst in Children: Ten Years Data Review. J Clin Diagn Res. December 2015; 9(12):PC13-PC15. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717790/.
  2. Omar Islam. Thyroglossal Duct Cyst Imaging. In: Daniel D Mott. Medscape. Oct 16, 2015; http://emedicine.medscape.com/article/1346365-overview.
  3. Inga Schader, Stephen Robertson, Kiki Maoate, Spencer Beasley. Hereditary thyroglossal duct cysts. Pediatric Surgery International. July 2005; 21(7):593-594. http://www.ncbi.nlm.nih.gov/pubmed/16012840. Accessed 5/17/2016.
  4. Victor A. McKusick. THYROGLOSSAL DUCT CYST, FAMILIAL. In: Iosif W. Lurie. OMIM. 7/13/2012; http://www.omim.org/entry/188455.
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Basic Information

  • Children's Hospital Boston has an information page on cysts and sinuses of the head and neck which includes information on thyroglossal cyst. Click on Children's Hopstial Boston to view this information page.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Familial thyroglossal duct cyst. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hereditary thyroglossal duct cysts
  • Thyroglossal duct cysts
  • Thyroglossal duct cysts familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.