Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Inborn errors of metabolism · Mineral metabolism disease · Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia with congenital joint dislocations
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.
This condition has no sub-types.