Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. Issue 7 (18th November 2005)

• Record Type: Journal Article
• Authors: Shaw-Smith, C
• Is Part Of: Journal of medical genetics. Volume 43:Issue 7(2006)
• Page Start: 545
• Page End: 554
• Publication Date: 2005-11-18
• Subjects: anophthalmia-oesophageal-genital -- CHARGE syndrome -- Feingold syndrome -- oesophageal (esophageal) atresia -- tracheo-oesophageal (-esophageal) fistula; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2005.038158
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (non-syndromic cases), oesophageal atresia/tracheo-oesophageal fistula occur in isolation. Data from twin and family studies suggest that genetic factors do not play a major role, and yet there are well-defined instances of this malformation where genetic factors clearly are important. This is highlighted by the recent identification of no fewer than three separate genes with a role in the aetiology of oesophageal atresia: those for Feingold syndrome (N-MYC), anophthalmia-oesophageal-genital (AEG) syndrome (SOX2), and CHARGE syndrome (CHD7). Additional support for genetic factors in this malformation comes from chromosomal studies and mouse models. This paper reviews current knowledge of the genetics and epidemiology of the different oesophageal atresia/tracheo-oesophageal fistula syndromes and associations.