BWS can refer to several things, but it most commonly refers to Beckwith-Wiedemann Syndrome.
Beckwith-Wiedemann Syndrome (BWS) is a growth disorder that primarily affects children. It is characterized by several features, which can vary in severity and presentation.
Key features of BWS may include:
Macrosomia: Being significantly larger than average at birth.
Macroglossia: An enlarged tongue.
Abdominal Wall Defects: Such as omphalocele (intestines outside the body at birth) or umbilical hernia.
Hemihyperplasia: Asymmetric overgrowth of one side of the body or a specific body part.
Increased Risk of Childhood Tumors: Especially Wilms tumor (a kidney cancer) and hepatoblastoma (a liver cancer).
Hypoglycemia: Low blood sugar in infancy.
BWS is often caused by genetic or epigenetic alterations affecting genes on chromosome 11p15. These alterations can involve imprinting, mutations, or chromosomal rearrangements. BWS can be inherited, but it is more often caused by a de novo (new) genetic change.
Management of BWS involves regular screenings for tumors during childhood, monitoring for hypoglycemia, and addressing other specific issues as they arise. Treatment strategies will vary based on the individual's specific symptoms and severity.
Ne Demek sitesindeki bilgiler kullanıcılar vasıtasıyla veya otomatik oluşturulmuştur. Buradaki bilgilerin doğru olduğu garanti edilmez. Düzeltilmesi gereken bilgi olduğunu düşünüyorsanız bizimle iletişime geçiniz. Her türlü görüş, destek ve önerileriniz için iletisim@nedemek.page