Tracheoesophageal Fistula With Or Without Esophageal Atresia

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Retrieved

2019-09-22

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Omim

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Genes

SOX2, CHD7, MYCN, PLEC, PAH, OTX2, SIX6, ARNT2, ITGB4, HESX1, SOX3, SEMA3E, WDR60, ITGA6, WDR35, FGFR2, FGFR1, IFT80, FANCB, ERCC4, DYNC2H1, WDR34, PROKR2, RMRP, TEF, EFTUD2, GLI3, NOG, GSTP1, GSTM1

SOX2, CHD7, MYCN, PLEC, PAH, OTX2, SIX6, ARNT2, ITGB4, HESX1, SOX3, SEMA3E, WDR60, ITGA6, WDR35, FGFR2, FGFR1, IFT80, FANCB, ERCC4, DYNC2H1, WDR34, PROKR2, RMRP, TEF, EFTUD2, GLI3, NOG, GSTP1, GSTM1, WDHD1, SDS, MTG2, AATF, HPGDS, GER, SLCO6A1, BRAF, PTEN, VEGFA, VCP, CEACAM3, CEACAM7, DBI, EGF, EYA1, FGF10, FOXF1, GLI1, GLI2, GSTT1, KRAS, PCSK5, PSG2, CEACAM5, SHH, TADA2A, HNF1B, GSTK1

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Clinical Features

Engel et al. (1970) gave the first report of childbearing by a woman who had had correction of esophageal atresia and tracheoesophageal fistula during infancy. The report was of further significance because her child likewise had esophageal atresia and tracheoesophageal fistula.

Schimke et al. (1972) reviewed the literature on esophageal atresia with or without tracheoesophageal fistula and reported a kindred with 2 proved and 3 probable cases. Affected sibs were reported by several authors and parental consanguinity was reported in at least one study (Grieve and McDermott, 1939). Mendelian inheritance is unlikely.

Dennis et al. (1973) reported esophageal atresia in a boy, his mother, and his mother's sister. They reviewed the literature and concluded that etiology is probably multifactorial. Kiesewetter and Bower (1980) reported affected father and daughter. Van Staey et al. (1984) reviewed 76 familial cases from the literature and added 2 personal observations (distributed in 33 pedigrees). They concluded that 'with exception of the cases where EA is part of a chromosomal or of a known monogenic or teratogenic syndrome, the recurrence risks fit into a multifactorial scheme.' Pletcher et al. (1991) reported 2 families: in one, the mother and a daughter had both esophageal atresia and tracheoesophageal fistula, whereas a son had only esophageal atresia. In the second family, a boy and girl with the same father but different mothers (all normal) had both esophageal atresia and tracheoesophageal fistula.

Shaw-Smith (2006) stated that in approximately half of the cases (syndromic esophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (nonsyndromic cases), esophageal atresia/tracheoesophageal fistula occur in isolation.

Population Genetics

Shaw-Smith (2006) estimated that esophageal atresia and/or tracheoesophageal fistula occur in approximately 1 in 3,500 births.

Cytogenetics

Marsh et al. (2000) reported a child with dysmorphic facial features, congenital cardiac malformation, and esophageal atresia with tracheoesophageal fistulae. The child died at 3 1/2 months of age. Karyotype analysis showed an interstitial deletion of chromosome 17, 46,XY,del(17)(q22q23.3). Parental karyotypes were normal.

Molecular Genetics

In a review, Shaw-Smith (2006) noted that data from twin and family studies had suggested that genetic factors do not play a major role; there are, however, at least 3 genes that had been identified as playing a role in the etiology of esophageal atresia: NMYC (164840) in Feingold syndrome (164280); SOX2 (184429) in anophthalmia-esophageal-genital syndrome (AEG syndrome, 206900); and CHD7 (608892) in CHARGE syndrome (214800).