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Diseases

Genetic and Rare Diseases Information Center (GARD)

Tracheal agenesis


Other Names for this Disease
  • Congenital tracheal agenesis
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Overview

Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia).[1] Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth.[2] The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.[3]
Last updated: 2/5/2016

References

  1. Tracheal agenesis. Orphanet. March, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3346.
  2. Ergun, Tewfik T & Daniel S. Tracheal agenesis: A rare but fatal congenital anomaly. Mcgill J Med. June, 2011; 13(1):10. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277332/.
  3. Mudd PA. Congenital Malformations of the Trachea. Medscape Reference. December 22, 2015; http://emedicine.medscape.com/article/837827-overview#a2.
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In Depth Information

  • 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 Tracheal agenesis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital tracheal agenesis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.