Multiple Pterygium Syndrome, Escobar Variant (EVMPS)

Multiple Pterygium Syndrome, Escobar Variant, also known as multiple pterygium syndrome, is related to popliteal pterygium syndrome and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b. An important gene associated with Multiple Pterygium Syndrome, Escobar Variant is CHRNG (Cholinergic Receptor Nicotinic Gamma Subunit), and among its related pathways/superpathways are Type I collagen synthesis in the context of osteogenesis imperfecta and Acetylcholine binding and downstream events. The drugs Tobramycin and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include eye and lung, and related phenotypes are ptosis and cryptorchidism