Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy

Chromatinopathy is an emerging category of multiple malformation syndromes caused by disruption in global transcriptional regulation with imbalances in the chromatin states (i.e., open or closed chromatin). These syndromes are caused by pathogenic variants in genes coding for the writers, erasers, readers, and remodelers of the epigenetic machinery. Majority of these disorders (93%) show neurological dysfunction in the form of intellectual disability. Other overlapping features are growth abnormalities, limb deformities, and immune dysfunction. In this study, we describe a series of children with six common chromatinopathy syndromes with an aim to develop pattern recognition of this emerging category of multiple malformation syndromes

Automated summary

Chromatinopathy is an emerging category of multiple malformation syndromes characterized by disruptions in transcriptional regulation and imbalances in chromatin states. These syndromes primarily affect neurological function, causing intellectual disability, and also involve growth abnormalities, limb deformities, and immune dysfunction.