David-O’Callaghan syndrome

Originally reported as VATER association, the syndrome consists of an association of vertebral abnormalities, anal atresia, cardiovascular defects, tracheoesophageal fistula, esophageal atresia, renal agenesis or dysplasia, and limb abnormalities. Additional abnormalities later observed in VATER patients include vertebral anomalies, and spondylocostal dysplasia, and intestinal, cardiac, renal, and respiratory malformations, leading to expansion of the acronym to VACERL association. Central nervous system malformations and mental retardation were noted in a small number of cases. The acronyms emphasize only the most frequently malformations and a wide variety of other defects affecting most parts of the body may be associated. See also VACTERL association with hydrocephalus syndrome.