BWS Genetics Abbreviation

Beckwith-Wiedemann Syndrome

An overgrowth syndrome, whose clinical manifestations typically include macrosomia, macroglossia, omphalocele, organomegaly, hemihypertrophy, neonatal hypoglycemia (low blood sugar in the newborn period), and ear creases and ear pits. Patients with this syndrome have an increased risk of embryonal malignancies such as Wilms tumor, hepatoblastoma, neuroblastoma, adrenocortical cancer, and rhabdomyosarcoma.