Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome (ˈbɛkˌwɪθ_ˈviːdə.mən; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (97th centile) Macroglossia Hemihyperplasia (asymmetric overgrowth of one or more regions of the body) Omphalocele (also called exomphalos) or umbilical hernia Embryonal tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma) in childhood Visceromegaly involving one or more intra-abdominal organs including liver, spleen, kidneys, adrenal glands, and/or pancreas Cytomegaly of the fetal adrenal cortex (pathognomonic) Renal abnormalities including structural abnormalities, nephromegaly, nephrocalcinosis, and/or later development of medullary sponge kidney Anterior linear ear lobe creases and/or posterior helical ear pits Placental mesenchymal dysplasia Cleft palate (rare in BWS) Cardiomyopathy (rare in BWS) Positive family history (≥1 family members with a clinical diagnosis of BWS or a history or features suggestive of BWS) Congenital hyperinsulinism Minor findings associated with BWS Pregnancy-related findings including polyhydramnios and prematurity in fetuses with the condition.