<h4>Background</h4>Variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver-Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome.<h4>Case presentation</h4>A 6-year-old Chinese male child diagnosed with SEDKF underwent 3 years of growth hormone therapy. The gene discussed is MBTPS1; the disease is Silver-Russell syndrome.