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What is BECKWITH-WIEDEMANN SYNDROME?

Beckwith-Wiedemann Syndrome is a genetic disorder commonly characterized by overgrowth. The severity of this disorder varies widely in children and is usually recognized at birth. However, few children have all the associated characteristics. Some may have only a single, subtle feature, such as isolated hemihypertrophy of a limb (also known as hemihyperplasia).

Beckwith-Wiedemann Syndrome occurs in approximately 1 in 11,000 births, with about equal incidence in boys and girls.

Symptoms SYMPTOMS

The features of Beckwith-Wiedemann syndrome include: Large birth weight and length; Overgrowth of one side or one part of the body (hemihypertrophy/hemihyperplasia); An enlarged tongue; Low levels of sugar in bloodstream (hypoglycemia) during the newborn period and sometimes prolonged hypoglycemia (due to hyperinsulinism) ;Defects in the abdominal wall (such as umbilical hernia or an omphalocele, where the intestines and sometimes other abdominal organs protrude from the abdominal wall outside the body); Enlarged abdominal organs, such as the kidneys, liver and pancreas; Pits or creases in the earlobe or behind the ear; An increased risk of developing certain cancers during childhood (most which can be cured with proper treatment).

The primary facial manifestation of Beckwith-Weidemann syndrome is macroglossia, or an enlarged tongue. If the tongue is excessively large, it can interfere with the child's airway, impair feeding, deform the jaws, or splay the teeth. It is for these reasons that the craniofacial team may recommend a tongue reduction to alleviate these sequalae.