Craniofacial-Deafness-Hand Syndrome (CDHS)

Craniofacial-Deafness-Hand Syndrome, also known as cdhs, is related to childhood disintegrative disease and hypertelorism. An important gene associated with Craniofacial-Deafness-Hand Syndrome is PAX3 (Paired Box 3), and among its related pathways/superpathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include smooth muscle and breast, and related phenotypes are depressed nasal bridge and hypertelorism