Progressive pseudorheumatoid dysplasia

Progressive pseudorheumatoid disyplasia (PPD or PPAC[1]) is a disorder of bone and cartilage that affects many joints. The disorder leads to stiff joints, short stature and widening of the ends of the finger and toe bones as well as other tubular bones.[2]

Cause

PPD is due to a mutation in the Wnt1-inducible signalling protein 3 (WISP3) gene, which encodes a signalling factor involved in cartilage homeostasis.[3]

Symptoms

Symptoms are present typically between ages three and six years.[4][5]

  • Abnormal walking pattern
  • Weakness/fatigue
  • Stiffness in the joints of the fingers and knees

Diagnosis

Prognosis

PPD has no severe effect on life span.[6]

Epidemiology

PPD is an extremely rare disease. In the United States the disease is estimated to affect less than 5,000 people[2] and approximately 1 per million people in the United Kingdom however it is believed to be more common in Turkey and the Middle East.[4]

References
  1. "Progressive pseudorheumatoid dysplasia". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-09-07.
  2. "Progressive pseudorheumatoid dysplasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-07.
  3. Torreggiani, Sofia; Torcoletti, Marta; Campos-Xavier, Belinda; Baldo, Francesco; Agostoni, Carlo; Superti-Furga, Andrea; Filocamo, Giovanni (March 2019). "Progressive pseudorheumatoid dysplasia: a rare childhood disease". Rheumatology International. 39 (3): 441–452. doi:10.1007/s00296-018-4170-6. ISSN 1437-160X. PMID 30327864. S2CID 53528751.
  4. "Progressive pseudorheumatoid dysplasia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-09-07.
  5. Bhavani, Gandham SriLakshmi; Shah, Hitesh; Shukla, Anju; Dalal, Ashwin; Girisha, Katta Mohan (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Progressive Pseudorheumatoid Dysplasia", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 26610319, retrieved 2022-09-07
  6. Chen, Wenji; Mo, Shiyan; Luo, Gui; Wang, Yanyan; Deng, Xiaohu; Zhu, Jian; Zhao, Wei (2018-09-10). "Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3". Pediatric Rheumatology. 16 (1): 55. doi:10.1186/s12969-018-0272-7. ISSN 1546-0096. PMC 6131911. PMID 30200995.
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