Progressive pseudorheumatoid dysplasia
Other Names for this Disease
- Progressive pseudorheumatoid arthropathy of childhood
- Spondyloepiphyseal dysplasia tarda - progressive arthropathy
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 Bony widening at the fingers' joints progresses leading to permanent bending of the fingers (camptodactyly). Spine involvement results in short trunk and hunching of the back (kyphosis). It may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPD is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. There is still no cure. Treatment may include pain medication and hip and knee joint replacement surgery at an early age.Progressive pseudorheumatoid disyplasia (PPD) is a disorder of bone and cartilage that affects many joints. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. 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.
Last updated: 4/21/2016
- Spranger JW, Brill PW, Poznanski A. Bone dysplasias, 2nd ed. New York, NY: Oxford University Press; 2002;
- Bhavani GS, Shah H, Shukla A, Dalal A & Girisha KM. Progressive pseudorheumatoid dysplasia. GeneReviews. November, 2015; http://www.ncbi.nlm.nih.gov/books/NBK327267/.
- Genetics Home Reference contains information on Progressive pseudorheumatoid dysplasia. This website is maintained by the National Library of Medicine.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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 dysplasia. 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.