Genetics of congenital esophageal defects

An analysis of 304 cases of esophageal atresia in fetuses and neonates showed that frequency of other congenital malformations is 43.1% including 10% of chromosomal disorders and monogenous syndromes. Summarizing the authors' own data and evidences from literature the genetic risk for sibs is calculated to be 0.88% and heredity--57.3 +/- 5.1%. The hypothesis that esophageal atresia is a malformation of multifactorial genesis with polygenic hereditary component is confirmed.