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Diseases

Genetic and Rare Diseases Information Center (GARD)

Trisomy 18


Other Names for this Disease
  • Chromosome 18 trisomy
  • 18 trisomy
  • Edwards syndrome
  • Trisomy 16-18 (formerly)
  • Trisomy E (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Trisomy 18 is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms include severe intellectual disability; low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; congenital heart defects; and various abnormalities of other organs. Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Some children have survived to their teenage years, but with serious medical and developmental problems. Most cases are not inherited and occur sporadically (by chance).[1][2]
Last updated: 7/7/2015

References

  1. Trisomy 18. Genetics Home Reference. March, 2013; http://ghr.nlm.nih.gov/condition/trisomy-18. Accessed 8/23/2015.
  2. Haldeman-Englert C. Trisomy 18. MedlinePlus. August 2011; http://www.nlm.nih.gov/medlineplus/ency/article/001661.htm. Accessed 1/17/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Trisomy 18. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Trisomy 18.
  • 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.
  • 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 Trisomy 18. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chromosome 18 trisomy
  • 18 trisomy
  • Edwards syndrome
  • Trisomy 16-18 (formerly)
  • Trisomy E (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.