Progressive pseudorheumatoid arthropathy of childhood
Other Names for this Disease
- Arthropathy, progressive pseudorheumatoid, of childhood
- Progressive pseudorheumatoid chondrodysplasia
- Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age.
Other forms of spondyloepiphyseal dysplasia tarda include:
- Spranger JW, Brill PW, Poznanski A. Bone dysplasias, 2nd ed. New York, NY: Oxford University Press; 2002;
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