Multiple Pterygium Syndrome, Lethal Type (LMPS)

Multiple Pterygium Syndrome, Lethal Type, also known as lethal multiple pterygium syndrome, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b and multiple pterygium syndrome, escobar variant, and has symptoms including edema An important gene associated with Multiple Pterygium Syndrome, Lethal Type is CHRND (Cholinergic Receptor Nicotinic Delta Subunit), and among its related pathways/superpathways are CREB Pathway and Acetylcholine binding and downstream events. Affiliated tissues include bone and lung, and related phenotypes are hypertelorism and abnormal facial shape