Beckwith-Wiedemann Syndrome: An Overview for New Parents

Abstract

As the day approaches when a newborn enters this world, it should be an exciting time filled with joy and anticipation. However, when a child is born with unusual physical characteristics, the prospect of a normal life can suddenly be diminished. One common congenital overgrowth disorder is Beckwith-Wiedemann Syndrome (BWS). It is associated with the abnormal expression of genes within a specific region of chromosome 11. Although the characterization of BWS is widespread and varies in its complexity from case to case, the primary traits include above average birth weight, an unusually large tongue, uncommonly large internal organs, umbilical hernia, low blood sugars, and kidney abnormalities, among others. Through careful evaluation from specialists such as cardiologist (heart), oncologist (cancer), nephrologist (kidney), orthopedist (limb length discrepancies), endocrinologist (blood sugar), gastroenterologist (intestinal), plastic surgeon (craniofacial/tongue abnormalities) or sometimes other specialists, the prospect of a normal life can be realized. Using ultrasound surveillance to watch for any potential malignant tumor growth can give early detection remarkable success in fighting childhood cancer for which children with Beckwith-Wiedemann Syndrome are at an increased risk of developing.