Progressive Pseudorheumatoid Dysplasia (WISP3)

Progressive pseudorheumatoid dysplasia of childhood is caused by pathogenic variants in the gene WISP3. Pathogenic variants in this gene disrupt normal cartilage maintenance and bone growth, leading to cartilage degeneration and joint problems. The age of onset is infancy to early childhood and clinical manifestations begin with weakness and stiffness of the finger and knee joints. Clinical features include permanently bent fingers, bowing of the legs, hip pain, muscle weakness, and symmetric swelling of the finger and knee joints. Most patients have spinal involvement manifesting as exaggerated lumbar lordosis, thoracic kyphosis, and/or scoliosis. Life expectancy of affected individuals is expected to be normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):