How to confirm the diagnosis of BWS syndrome

BWS syndrome, or Beckwith-Wiedemann syndrome, is a congenital disorder due to defective gene expression. The diagnosis of this disease usually requires a combination of clinical symptoms and genetic testing.1, Clinical symptoms: there can be giant tongue, giant body, umbilical hernia, abdominal wall defects, intrauterine and postnatal overgrowth, enlarged abdominal organs including liver, spleen, pancreas, kidneys, adrenal glands, etc. Newborns can also have symptoms such as hypoglycemia, flame-like facial erythema, earlobe line folding, posterior ear chakra depression, excessive amniotic fluid, lateral hypertrophy, and embryonic tumors.2, Genetic testing: the diagnosis can be made by molecular studies. BWS syndrome is a rare disease, mostly diagnosed after birth, with relatively mild symptoms and usually a good prognosis. Treatment requires a specific plan for clinical symptoms, such as surgery for megalingual, while hypoglycemia is usually only temporary and can usually be improved by intravenous glucose drip.