Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth and various congenital abnormalities. While the exact prevalence of BWS can vary across different populations, it is estimated to occur in approximately 1 in every 10,000 to 13,700 live births.
BWS is caused by genetic alterations involving specific genes on chromosome 11. These alterations can occur sporadically or be inherited from an affected parent. The syndrome is associated with a range of symptoms, including macrosomia (large body size), omphalocele (abdominal wall defect), macroglossia (enlarged tongue), and visceromegaly (enlarged organs).
Due to the variability in clinical presentation and the potential for mild cases to go undiagnosed, the prevalence of BWS may be underestimated. Early diagnosis and appropriate management are crucial for individuals with BWS to address potential complications and provide necessary support.
While BWS is considered a rare condition, it is important to consult with healthcare professionals for accurate information and guidance regarding prevalence and management strategies.