Beckwith-Wiedemann syndrome (BWS)
What is it?
It is a congenital developmental disorder that causes macrosomia, visceromegaly, a predisposition to tumors of embryonic origin before the age of 8-10 years, and congenital malformations. The prevalence of typical BWS is thought to be just under 1:10,000 newborns; the phenotypic spectrum currently includes several cases of isolated hemihyperplasia. The molecular basis of BWS is complex and includes changes in the expression of various imprinted growth regulator genes present in the 11p15.5 region.
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.
Where do we treat it?
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