KATNIP and Esophageal atresia: Esophageal atresia is not a specific feature of JS, but it is very interesting to note that KATNIP was already reported as a candidate gene for the etiopathogenesis of this defect [23], although one single individual was reported, with a de novo missense variant and a poor clinical description (esophageal atresia, heart defect, cleft lip).