Prenatal diagnosis of VACTERL association can be challenging because certain component features of the condition can be difficult to detect prior to birth. Therefore, the diagnosis of VACTERL association is typically based on features that are seen when a baby is born or in the first few days of life. The diagnosis is based on having at least three of the following features (which make up the acronym VACTERL): vertebral defects, commonly accompanied by rib anomalies; imperforate anus or anal atresia; cardiac (heart) defects; tracheo-esophageal fistula with or without esophageal atresia; renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys; and limb abnormalities.5

Additional types of abnormalities have also been reported in affected individuals and may be used as clues in considering a diagnosis of other conditions with overlapping features. Depending on the features present, some other conditions that may be considered when diagnosing a child who has features of VACTERL association (differential diagnosis) may include Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral spectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus.5

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