Spondyloepiphyseal Dysplasia, Kondo-Fu Type (SEDKF)

Spondyloepiphyseal Dysplasia, Kondo-Fu Type, also known as sed with elevated blood lysosomal enzymes, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and silver-russell syndrome 1. An important gene associated with Spondyloepiphyseal Dysplasia, Kondo-Fu Type is MBTPS1 (Membrane Bound Transcription Factor Peptidase, Site 1). Affiliated tissues include bone and skin, and related phenotypes are kyphosis and cataract