Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.

ABSTRACT: Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of clinical expression. By increasing the number of patients described, knowledge of the natural history of the condition has been enriched with the demonstration of the relative frequency of various potential comorbidities. Since 2006, the discovery of CdLS's molecular basis has shown an equally vast genetic heterogeneity linked to the presence of variants in genes encoding for the cohesin complex pathway. The most recent clinical-genetic data led to the classification of the "original syndrome"

SUBMITTER: Selicorni A 

PROVIDER: S-EPMC8307173 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature