Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF, OMIM #618392) is a rare autosomal recessive skeletal dysplasia, which is caused by pathogenic variants in MBTPS1, initially described by Kondo and Fu in 2018 (1). Here, MBTPS1 is linked to spondyloepiphyseal dysplasia.