Van Maldergem Syndrome 1 (VMLDS1)

Van Maldergem Syndrome 1, also known as cerebrofacioarticular syndrome, is related to van maldergem syndrome 2 and van maldergem syndrome. An important gene associated with Van Maldergem Syndrome 1 is DCHS1 (Dachsous Cadherin-Related 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Initial triggering of complement. Affiliated tissues include brain and trachea, and related phenotypes are global developmental delay and abnormal facial shape