Beckwith-Wiedemann syndrome (BWS)
Which are the symptoms?
Clinical characteristics are very diverse, therefore a number of signs / symptoms have been identified, divided into major and minor; for the diagnosis, the coexistence of 3 main criteria or 2 main criteria and a minor one is considered necessary. Abnormal growth can also manifest as hemihypertrophy and / or macroglossia. Hypoglycemia occurs in 30-50% of newborns. In addition to macrosomia, macroglossia, hemihypertrophy and hypoglycemia, omphalocele / umbilical hernia / diastasis of the rectus abdominis muscles, embryonic tumor, the presence of one or more folds in the anterior part of the earlobe and dimples on the back of the spiral, flaming nevus or other vascular malformations, visceromegaly affecting organs abdominal cavity, fetal adrenal cytomegaly (pathognomonic), renal abnormalities.
How is it treated?
There is no definitive therapy. Close observation is required with checks every 3-4 months.