Progressive pseudorheumatoid dysplasia

Definition:

Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that leads to stiffness and swelling of joints. The disease is caused by mutations of the WISP3 gene.

References:

[1]. H E el-Shanti, et al. Progressive pseudorheumatoid dysplasia: report of a family and review. J Med Genet. 1997 Jul;34(7):559-63. [Content Brief]

[2]. Hou-De Zhou, et al. Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. J Mol Med (Berl). 2007 Sep;85(9):985-96. [Content Brief]

[3]. Loubna Bennani, et al. Progressive pseudorheumatoid dysplasia: three cases in one family. Joint Bone Spine. 2007 Jul;74(4):393-5. [Content Brief]

[4]. Valérie Delague, et al. Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. Am J Med Genet A. 2005 Oct 1;138A(2):118-26. [Content Brief]

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