Ablepharon-Macrostomia Syndrome (AMS)

Ablepharon-Macrostomia Syndrome, also known as ablepharon macrostomia syndrome, is related to ectropion and muscular dystrophy, and has symptoms including eye manifestations and dry skin. An important gene associated with Ablepharon-Macrostomia Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways are Neurogenesis regulation in the olfactory epithelium and Cardiac progenitor differentiation. The drugs Hydroxocobalamin and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are delayed speech and language development and microtia