musculoskeletal system disorder hereditary disease Upington disease https://rarediseases.info.nih.gov/diseases/5421/upington-disease https://www.malacards.org/card/upington_disease icd11.foundation:1846351406 familial dyschondroplasia Upington disease UMLS:C1860596 hip dysplasia-enchondromata-ecchondroma syndrome MEDGEN:348145 OMIM:191520 MESH:C536472 Perthes-like hip disease, enchondromata, and Ecchondromata GARD:0005421 MONDO:0008624 Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. Orphanet:3408 SCTID:719041000 obsolete primary bone dysplasia with disorganized development of skeletal components