Health AI Central
Peer-Reviewed Publication
Am J Med Genet A2026September 11, 2026Case Reports

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood.

Narinder Singh1,2, Arpita Neogi1,3, Liliane H Gibbs4, Jagdish Soni5, Elizabeth Chao1,6, Virginia Kimonis1,7,8
1Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA.
2Chino Valley Medical Center, California, USA.
3Cardiovascular Research Center, Division of Cardiology, Department of Internal Medicine, Yale University, New Haven, Connecticut, USA.
4Pediatric Radiology, Department of Radiology, University of California, Irvine, California, USA.
5Gandhi Lincoln Hospital, Deesa, Gujarat, India.
6Ambry Genetics, Aliso Viejo, California, USA.
7Department of Neurology, University of California, Irvine, California, USA.
8Department of Pathology, University of California, Irvine, California, USA.
PubMed DOI

Abstract

Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness. The radiologic manifestations are often mistaken for juvenile rheumatoid arthritis and include platy…

Create a free account to keep reading

Free members get 10 full research views every month across publications, clinical trials, FDA clearances, adverse events, and NIH grants. No credit card required.

Create Free AccountSign In

Want unlimited research access? See Pro plans

Data Accuracy Notice: Research intelligence on Health AI Central is aggregated from public sources (PubMed, ClinicalTrials.gov, FDA, NIH, CMS, and others) and refreshed nightly. Classifications and derived metrics are produced by automated methods described in our Methodology. We recommend verifying critical data points against the primary sources before making decisions.