Emanuel Syndrome and Congenital Diaphragmatic Hernia: A Systematic Review

Emanuel syndrome (ES) is a rare chromosomal disorder caused by a supernumerary chromosome 22 derivative known as der(22)t(11;22). Affected individuals are the offspring of a parent with a balanced translocation, and suffer from physical and cognitive disabilities from birth [1, 2]. Common phenotypic manifestations associated with ES include ear pits, micrognathia, heart defects, cleft palate, genitourinary malformations, and intestinal atresia [1]. Patients with ES have severe developmental delay, with survivors exhibiting severe-to-profound intellectual disability and only a few learning to walk, and none living unassisted [1].

Source: Journal of Pediatric Surgery - November 19, 2021 Category: Surgery Authors: Lauren E. Adams, Alison Chapman, Carrie L. Cormack, Kirstin Campbell, Ashley H. Ebanks, David J. Annibale, Laura E. Hollinger, Congenital Diaphragmatic Hernia Study Group Source Type: research