spondyloepiphyseal dysplasia with congenital joint dislocations
spondyloepiphyseal dysplasia with congenital joint dislocationsA autosomal recessive bone dysplasia (OMIM:143095) clinically characterised by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. It is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. The dislocations improve during childhood, both spontaneously and with surgery; features of spondyloepiphyseal dysplasia become apparent later, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood.
Defects in CHST3, which encodes a sulfotransferase that transfers sulphate to chondroitin, keratan and sialyl N-acetyllactosamine oligosaccharides, cause spondyloepiphyseal dysplasia with congenital joint dislocations.