Upington disease

Upington disease is a rare condition that affects the hips and pelvis. It is characterized by changes in the hip bones that are similar to what is seen in Perthes disease. These changes include premature closure of the capital femoral epiphyses, widened femoral necks, and flattened femoral heads. In addition, people with Upington disease may develop enchondromata and ecchondromata, which are benign cartilage tumors. This condition has been observed in siblings across three generations, indicating a pattern that runs in families. The information provided is based on observations in one family, which means that more research may be needed to fully understand all aspects of the disease.

People with Upington disease experience hip abnormalities that can lead to hip pain and reduced range of motion due to the altered shape of the hip joint. However, detailed descriptions of all symptoms and their severity are not available from the current sources.

Upington disease is known to be inherited in an autosomal dominant manner. This means that the condition can run in families, with one copy of the mutated gene sufficient to cause the disease. No specific genes or additional risk factors have been identified from the current information.

There is limited treatment information available for Upington disease. Management may involve approaches to address hip dysplasia and related skeletal abnormalities. Detailed treatment guidelines or specific management strategies are not provided in the current sources.

Information about the outlook for people with Upington disease is currently limited for this condition.

Current research on Upington disease is limited, in part because the condition has been described in only a few family cases. More studies are needed to better understand the disease, its progression, and potential management strategies.