spondyloepiphyseal dysplasia with congenital joint dislocations (DOID:0050813)
Alliance: disease page
Synonyms: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CHST3-Related Skeletal Dysplasia; humero-spinal dysostosis; Humero-spinal dysostosis with congenital heart disease; humerospinal dysostosis; Kozlowski Celermajer Tink syndrome; Omani Type; Spondyloepiphyseal Dysplasia
Alt IDs: OMIM:143095
Definition: A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.