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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H00758 Progressive pseudorheumatoid dysplasia
Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Megarbane A
Title
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.
