Spondyloepiphyseal Dysplasia, Stanescu Type (SEDSTN)

Spondyloepiphyseal Dysplasia, Stanescu Type, also known as sed, stanescu type, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Spondyloepiphyseal Dysplasia, Stanescu Type is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are trismus and waddling gait