biostudies-literatureUnknown40(1)Nord PKarolinska Institute<h4>Purpose</h4>Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P.<h4>Methods</h4>Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher's Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant.<h4>Results</h4>GeneticPediatric surgery international259https://www.ebi.ac.uk/biostudies/studies/S-EPMC11445286biostudies-literatureCongenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.PMC11445286Congenital Diaphragmatic Hernia Study GroupBurgos CMPeterson PNord PHarting MTEbanks AHIwarsson EfalseCongenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.<h4>Purpose</h4>Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P.<h4>Methods</h4>Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher's Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant.<h4>Results</h4>Genetic2024-01-01T00:00:00Z2024 Oct2026-06-01T09:12:35.245Z2025-04-06T16:10:05.802ZS-EPMC114452863935258010.1007/s00383-024-05843-5