Objective To summarize the clinical phenotypic spectrum of children with chromatinopathies, and to analyze their genetic etiologies, aiming to provide a basis for precise diagnosis and genetic counseling. Methods Clinical data of 10 children with chromatinopathies were retrospectively analyzed, including general information, clinical phenotypic characteristics, and genetic testing results. Whole⁃exome sequencing was performed on peripheral blood samples from the children and their family members to screen for candidate gene variants. Candidate gene variants were subsequently validated by Sanger sequencing, and pathogenicity was assessed using bioinformatics analysis. Results The 10 children comprised 3 cases of Cornelia de Lange syndrome (CdLS), 3 cases of Kabuki syndrome (KS), 2 cases of Coffin⁃Siris syndrome (CSS), and 2 cases of Menke⁃Hennekam syndrome (MHS). The predominant clinical manifestations included growth retardation (accounting for 90.0%) and neurodevelopmental disorders (accounting for 60.0%), with craniofacial anomalies present in 90.0% of cases. However, distinct differences in facial features and systemic involvement were observed across different syndromes. A total of 10 variants in 8 known pathogenic genes were identified by genetic test, of which 5 were novel variants not previously reported. Loss⁃of⁃function variants predominated (accounting for 60.0%), and de novo variants were more common (accounting for 60.0%). Conclusion  Children with chromatinopathies exhibit a highly complex and heterogeneous clinical phenotype. Early genetic testing can improve the accuracy of disease recognition and subtyping, thereby providing a basis for genetic counseling and individualized management.

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