The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and / or noninflammatory pericardial effusions have been observed in some patients. In our study, we aimed to highlight the clinical symptomatology, presentation and associated features of the newly recognized syndrome and to identify the genetic loci that are linked to CACP among Egyptian families. We correlated the genetic background of the disease with its clinical symptomatology and presentation.