spondyloepiphyseal dysplasia with congenital joint dislocations (MONDO_0007738, a Monarch Disease Ontology id) can be described as follows. CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. Also known as: CHST3-related skeletal dysplasia, Humerospinal dysostosis, Kozlowski Celermajer tink syndrome, Omani type, SDCD, CHST3 type, chondrodysplasia with congenital joint dislocations, CHST3 type, chondrodysplasia with multiple dislocations, humero-spinal dysostosis with congenital heart disease.