What is Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome description. Find out what Beckwith-Wiedemann Syndrome is and know more about it.
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects growth and development. It is characterized by a range of physical abnormalities and an increased risk of certain childhood cancers. BWS is typically present at birth and can vary in severity among individuals.
Some common features of BWS include macrosomia (large body size), macroglossia (enlarged tongue), omphalocele (abdominal wall defect), ear creases or pits, and organomegaly (enlarged organs). Children with BWS may also experience hypoglycemia (low blood sugar) and hemihypertrophy (asymmetric overgrowth of one side of the body).
BWS is caused by genetic changes or mutations in certain genes, with the most common being alterations in the CDKN1C gene. These genetic changes disrupt the normal regulation of growth and development, leading to the characteristic features of BWS.
Early diagnosis and management of BWS are crucial. Treatment may involve a multidisciplinary approach, addressing the specific symptoms and associated complications. Regular monitoring for cancer development is also important, as children with BWS have an increased risk of developing certain tumors, such as Wilms tumor and hepatoblastoma.
