Cornelia De Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is primarily caused by genetic mutations or alterations in certain genes. The most commonly affected genes are NIPBL, SMC1A, and SMC3, which play crucial roles in regulating the development and functioning of various body systems. These mutations disrupt normal cellular processes, leading to the characteristic features and symptoms of CdLS. In some cases, the cause of CdLS may be unknown, indicating that other unidentified genetic factors may be involved.