Schimke Immuno-Osseous Dysplasia is an extremely rare genetic disorder characterized by short stature, kidney disease, and a weakened immune system. It is estimated to affect approximately 1 in every 1-3 million individuals worldwide. The condition is more prevalent in certain populations, such as the Amish community in the United States. Due to its rarity, Schimke Immuno-Osseous Dysplasia is considered a very uncommon disorder.
Schimke Immuno-Osseous Dysplasia (SIOD) is an extremely rare genetic disorder that affects multiple systems in the body. It is characterized by short stature, kidney disease, and a weakened immune system. SIOD is caused by mutations in the SMARCAL1 gene.
The prevalence of SIOD is difficult to determine due to its rarity. However, it is estimated to affect approximately 1 in every 1-3 million individuals worldwide. The disorder has been reported in various ethnic groups, suggesting that it is not specific to any particular population.
SIOD typically manifests in early childhood, with symptoms worsening over time. The severity of the condition can vary widely among affected individuals, even within the same family. The most common features include growth failure, progressive kidney disease, skeletal abnormalities, and an increased susceptibility to infections.
Due to its rarity, there is limited information available on the long-term prognosis of SIOD. However, it is generally considered a progressive and life-threatening condition. Early diagnosis and management of symptoms are crucial in improving the quality of life for individuals with SIOD.