Wiedemann-Steiner Syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. It was first described in 1989 and since then, only a limited number of cases have been reported in medical literature.
The prevalence of Wiedemann-Steiner Syndrome is currently unknown, as it is considered an extremely rare condition. Due to its rarity, it is challenging to determine the exact number of individuals affected worldwide. However, it is estimated to occur in less than 1 in 1,000,000 individuals.
Wiedemann-Steiner Syndrome is typically caused by mutations in the KMT2A gene, which plays a role in regulating gene expression. The syndrome is characterized by distinctive facial features, developmental delays, intellectual disability, short stature, and skeletal abnormalities.
As with many rare disorders, early diagnosis and appropriate medical management are crucial for individuals with Wiedemann-Steiner Syndrome. Genetic counseling and support services can also be beneficial for affected individuals and their families.