Whole-genome sequencing identified a homozygous c.3756dup mutation in the <i>PRG4</i> gene, introducing a premature stop codon and truncating lubricin.<h4>Conclusion</h4>This report highlights the importance of recognizing CACP syndrome by identifying distinctive clinical, laboratory, and imaging characteristics, notably congenital camptodactyly and noninflammatory joint swelling, to prevent misdiagnosis and guide supportive management. This evidence concerns the gene PRG4 and Camptodactyly.