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esophageal atresia

MIM.189960

Friday 15 October 2004

Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. OA occurs in 1 in 2500 live births. The vast majority of cases are sporadic and the recurrence risk for siblings is 1%.

In 86% of cases there is a distal tracheooesophageal fistula, in 7% there is no fistulous connection, while in 4% there is a tracheooesophageal fistula without atresia.

Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects).

The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (SHH) or the SHH signaling pathway.

Types

- isolated esophageal atresia
- syndromic esophageal atresia

  • CHARGE syndrome
  • VATER association/VACTERL association

See also

- esophageal atresia with tracheoesophageal fistula (TOF)

Case records

- Case 10299

References

- Geneviève D, de Pontual L, Amiel J, Sarnacki S, Lyonnet S. An overview of isolated and syndromic oesophageal atresia. Clin Genet. 2007 May;71(5):392-9. PMID: 17489843

- Spitz L. Oesophageal atresia. Orphanet J Rare Dis. 2007 May 11;2:24. PMID: 17498283

- Brunner HG, Bokhoven H. Genetic players in esophageal atresia and tracheoesophageal fistula. Curr Opin Genet Dev. 2005 Jun;15(3):341-7. PMID: 15917211

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