The prevalence of Weaver Syndrome, a rare genetic disorder, is not well-established due to its rarity. However, it is estimated to affect approximately 1 in every 50,000 to 100,000 individuals worldwide. This syndrome is characterized by accelerated growth and development, distinctive facial features, advanced bone age, and intellectual disability. While the exact cause remains unknown, it is believed to be caused by mutations in the EZH2 gene. Early diagnosis and management can help improve the quality of life for individuals with Weaver Syndrome.
Weaver syndrome is a rare genetic disorder characterized by accelerated growth and development, distinctive facial features, and various other physical and intellectual abnormalities. The prevalence of Weaver syndrome is quite low, making it a rare condition.
Due to its rarity, it is challenging to determine the exact prevalence of Weaver syndrome in the general population. However, it is estimated to affect approximately 1 in 50,000 to 1 in 100,000 individuals.
The syndrome is typically diagnosed in early childhood based on clinical features and genetic testing. Some of the key features include advanced bone age, tall stature, broad forehead, hypertelorism (widely spaced eyes), and intellectual disability. Affected individuals may also experience difficulties with coordination and speech.
As a rare disorder, Weaver syndrome requires a multidisciplinary approach for management and support. Treatment focuses on addressing specific symptoms and providing supportive care to enhance the individual's quality of life.