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An overview of isolated and syndromic oesophageal atresia
Author(s) -
Geneviève D,
De Pontual L,
Amiel J,
Sarnacki S,
Lyonnet S
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00798.x
Subject(s) - charge syndrome , atresia , choanal atresia , medicine , anal atresia , congenital malformations , tracheoesophageal fistula , epidemiology , congenital disorder , genetics , biology , pregnancy , surgery
Oesophageal atresia (OA) and/or tracheo‐oesophageal fistula (TOF) are frequent malformations observed in approximately one in 3500 births. OA/TOF can be divided clinically into isolated OA (IOA) and syndromic OA (SOA) when associated with other features, the most frequent being cardiac, limb and vertebral malformations or anal atresia. SOA is observed in 50% of patients and can be subdivided into several causative groups comprising environmental agents, chromosomal disorders, malformative associations (CHARGE syndrome and VATER/VACTERL association), and other multiple congenital anomaly disorders. The observation of chromosomal disorders with SOA, as well as mouse models of OA provide support for the involvement of genetic factors in OA. Yet, epidemiological data (twin and family studies) do not support the major role of genetic factors in the majority of cases of IOA but rather a multifactorial model. However, several genes involved in SOA have been recently identified, namely N‐MYC , SOX2 , and CHD7 involved in Feingold (MIM 164280), anophthalmia‐oesophageal‐genital (MIM 600992) and CHARGE syndromes respectively (MIM 214800), suggesting that OA/TOF, at least in their syndromic forms, may be a highly genetically heterogeneous group.