Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China

https://www.news-medical.net/news/20250829/Insights-into-clinical-features-and-genetic-variants-of-Cornelia-de-Lange-syndrome-in-China.aspx Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused eyebrows, short nose, upturned nose tip, and downturned mouth corners), growth retardation, small head (microcephaly), developmental delays, cognitive impairments, excess hair growth, and limb anomalies. Currently, mutations in seven genes (NIBPL, SMC1A, SMC3, RAD21, BRD4, HDAC8, and ANKRD11) are known to be associated with CdLS. CdLS is diagnosed based on both genetic testing and clinical examination. However, the clinical and genetic characteristics of CdLS in the Chinese population have not been determined.