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Genetic and Rare Diseases Information Center (GARD)

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Progressive pseudorheumatoid arthropathy of childhood


Other Names for this Disease

  • Arthropathy, progressive pseudorheumatoid, of childhood
  • PPAC
  • PPD
  • Progressive pseudorheumatoid chondrodysplasia
  • Progressive pseudorheumatoid dysplasia
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Overview

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.[1]

Other forms of spondyloepiphyseal dysplasia tarda include:

X-linked spondyloepiphyseal dysplasia tarda 
Autosomal dominant spondyloepiphyseal dysplasia tarda 
Spondyloepiphyseal dysplasia tarda Toledo type

Last updated: 12/18/2012

References

  1. Spranger JW, Brill PW, Poznanski A. Bone dysplasias, 2nd ed. New York, NY: Oxford University Press; 2002;
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Basic Information

  • Genetics Home Reference contains information on Progressive pseudorheumatoid arthropathy of childhood. This website is maintained by the National Library of Medicine.

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive pseudorheumatoid arthropathy of childhood. Click on the link to view a sample search on this topic.
  • Medscape Reference has information on spondyloepiphyseal dysplasia in general. You may need to register to view this medical reference, but registration is free.
Other Names for this Disease
  • Arthropathy, progressive pseudorheumatoid, of childhood
  • PPAC
  • PPD
  • Progressive pseudorheumatoid chondrodysplasia
  • Progressive pseudorheumatoid dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.