progressive pseudorheumatoid arthropathy of childhood
progressive pseudorheumatoid arthropathy of childhood
An autosomal recessive disorder (OMIM:208230) characterised by stiffness and swelling of joints, motor weakness and joint contractures of early (between age 3 and 8) onset in which there is progressive cartilage loss and bone destruction with age.Molecular pathology
Defects of WISP3, which encodes a connective tissue growth factor essential for normal postnatal skeletal growth and cartilage homeostasis, cause progressive pseudorheumatoid arthropathy of childhood.