spondyloepiphyseal dysplasia with congenital joint dislocations

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.

Signs and symptoms

• Short stature
• Dislocated radial head
• Intervertebral space narrowing
• Diminished sulfotransferase activity in cultured fibroblasts
• Limited hip extension
• Small epiphyses
• Knee dislocation
• Scoliosis
• Talipes equinovarus
• Highly arched eyebrow

Also known as: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Kozlowski Celermajer Tink syndrome; Omani Type