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Beckwith-wiedemann Syndrome
Beckwith-Wiedemann syndrome (BWS) is a congenital (present at birth) overgrowth syndrome that occurs in approximately one in 15,000 births. A syndrome is a collection of features often seen together. BWS is variable – some children have a number of features of the condition, others have only one or two. in this condition features of body are increased or overgrowth.
signs and symptoms of BWS
The most common features of the condition include:
-Increased height and weight at birth or in childhood.
-Asymmetry of growth, for example one arm or leg larger than the other (hemihypertrophy).
-Large tongue size (macroglossia).
Low blood sugar in the first few days or weeks of life (neonatal hypoglycaemia).
Umbilical hernia or other abdominal wall defect, for example exomphalos where the intestines and sometimes other organs such as the liver remain inside the umbilical cord but outside the abdomen at birth.
-Some children with the condition are at risk of Wilms' tumour of the kidney.
-Other features of the condition include subtle alterations in the shape of the ears and, rarely, cleft palate or a congenital heart defect. Tumours other than Wilms' tumour, for example hepatoblastoma (childhood liver tumour), occasionally occur in childhood but are much less common. Learning difficulties are not part of the condition other than in the very small number of children with a complex chromosome abnormality.
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