Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia with congenital joint dislocations
Definition
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 chondrodysplasia with congenital joint dislocations, CHST3 type, chondrodysplasia with multiple dislocations, CHST3-related skeletal dysplasia, Humerospinal dysostosis, SDCD, CHST3 type, spondyloepiphyseal dysplasia with congenital joint dislocations, spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type — per MONDO