Kniest Dysplasia (KD)

Kniest Dysplasia, also known as metatropic dwarfism, type ii, is related to cleft palate, isolated and retinal detachment, and has symptoms including large joints, wide set eyes and round flat face. An important gene associated with Kniest Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone and eye, and related phenotypes are abnormal cartilage collagen and depressed nasal bridge.