Disease Information for Beckwith-Wiedemann Syndrome: Definition

  • Beckwith"s syndrome, Beckwith-Wiedemann syndrome, a congenital autosomal dominant syndrome with variable expressivity characterized by exomphalos, macroglossia, and gigantism, often associated with visceromegaly, adrenocortical cytomegaly, and dysplasia of the renal medulla. Called also EMG s. and exomphalos-macroglossia-gigantism s.[Dorlands 2005]


    A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL), MACROGLOSSIA, and GIGANTISM and secondarily by visceromegaly, HYPOGLYCEMIA, and ear abnormalities-------------------------------------------------------.Beckwith Wiedemann Syndrome

    BWS;Beckwith-Syndrome; EMG Syndrome; Exomphalos-Macroglossia-Gigantism Syndrome; Hypoglycemia with Macroglossia; Macroglossia-Omphalocele-Visceromegaly Syndrome; Omphalocele-Visceromegaly-Macroglossia Syndrome

    Visceromegaly-Umbilical Hernia-Macroglossia Syndrome;

    Wiedmann-Beckwith Syndrome; Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder; It may be characterized by a wide spectrum of symptoms and findings that vary in range and severity from case to case; However, in many individuals with the syndrome, associated features may include above average weight and length at birth and/or increased growth after birth (postnatally); an unusually large tongue (macroglossia); enlargement of certain abdominal organs (visceromegaly); and/or abdominal wall defects; BWS may also be characterized by low blood sugar levels within the first days of life (neonatal hypoglycemia); advanced bone age, particularly up to age four; the presence of distinctive linear grooves in the ear lobes and/or other abnormalities of the facial area; and/or an increased risk of developing certain childhood cancers;

    In most instances, BWS results from genetic changes that appear to occur randomly (sporadically)