Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study

Musculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed examine the final diagnosis in patients who presented with musculoskeletal complaints rheumatology department. Patients Department of Pediatric Rheumatology and were referred pediatric department between January 2015 May 2019 evaluated retrospectively. A total 60 patients, 19 boys (31.66%), a mean age 12.46 ± 1.41 years included study. The consanguinity rate was 25%. most common (29.5%) cause referral presence skeletal anomalies (such as camptodactyly, clinodactyly, short stature) accompanying joint findings. Approximately one-third (n: 19) diagnosed followed up by genetics diagnoses follows: arthropathy, coxa vara, pericarditis (CACP) syndrome 3); trichorhinophalangeal 1); progressive pseudorheumatoid dysplasia 2); LIG4 H spondyloenchondrodysplasia (SPENCD) nonspecific connective tissue disorders 8). In differential are system, should also considered.