JMG Online First, published on November 21, 2005 as 10.1136/jmg.2005.038158 J Med Genet: first published as 10.1136/jmg.2005.038158 on 18 November 2005. Downloaded from Oesophageal atresia, tracheo-oesophageal fistula and the VACTERL association: review of genetics and epidemiology. Charles Shaw-Smith Department of Medical Genetics, Addenbrooke’s Hospital, Cambridge CB2 2QQ, Address for correspondence: Charles Shaw-Smith Department of Medical Genetics, Box 134, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ UK Telephone +44(0)1223 216446 Fax +44(0)1223 217054 Email
[email protected] http://jmg.bmj.com/ Running title: Genetics of oesophageal atresia on September 26, 2021 by guest. Protected copyright. Copyright Article author (or their employer) 2005. Produced by BMJ Publishing Group Ltd under licence. J Med Genet: first published as 10.1136/jmg.2005.038158 on 18 November 2005. Downloaded from Abstract Oesophageal atresia and/or tracheo-oesophageal fistula are common malformations occurring in approximately 1 in 3500 births. In around half of cases (syndromic oesophageal atresia), there are other associated anomalies, with cardiac malformations being the most common. These may occur as part of the VACTERL association (OMIM 192350). In the remainder of cases, oesophageal atresia/tracheo-oesophageal fistula occur in isolation (non-syndromic oesophageal atresia). Data from twin and family studies suggest that, in the majority of cases, 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.