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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 congenital malformation in which the tube that connects the pharynx and larynx to the lungs (trachea) is completely absent (agenesis) or partially absent (atresia) below the larynx.[1] It may be classified in 3 subtypes. Type I is characterized by agenesis of the first part of the trachea (proximal) and by the presence of a communication between the ending part of the trachea and the esophagus (distal tracheoesophageal fistula), whereas type II is defined by a complete absence of the trachea and by the presence of normal branching bronchi. In type III, the two main bronchi arise independently from the esophagus.[2] In about 90% of cases there are also other associated anomalies, and in many cases tracheal agenesis is part of a very rare condition known as VATER association. Tracheal agenesis should be suspected in cases where there is too much amniotic fluid (polydramnios), respiratory distress, bluish skin color (cyanosis)and no audible cry, and in those in whom tracheal intubation proves impossible.[3] Because of the lack of a normal airway, affected newborns survive only if there is a pathway for ventilation (such as a communication between the bronchus and the esophagus) exists. The treatment is done with a surgery to repair the trachea but the results are poor in many cases.[4]
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. Groot-van der Mooren MD. Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature. Eur J Pediatr. March, 2012; 171(3):425–431. http://link.springer.com/article/10.1007%2Fs00431-011-1563-x.
  3. 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/.
  4. 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

  • 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.