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Beckwith-Wiedemann syndrome

Background

Beckwith-Wiedemann: Exomphalos-Macroglossia- Gigantism; Neo-natal Hypoglycaemia; Visceromegaly; Hemihypertrophy

Features of Beckwith-Wiedemann syndrome include:

  • Macroglossia (a large tongue which may cause breathing, feeding or speech difficulties;
  • Exomphalos (umbilical hernia);
  • Over-growth (a high birth weight, and/or children who are bigger than their contemporaries);
  • Hemihypertrophy (one side of the body grows more than the other);
  • Hypoglycaemia (low blood sugar) after birth;
  • Characteristic facial appearance;
  • Creases or pits (indentations) of the ears.

There is an increased risk of tumour development, particularly Wilm's (kidney) tumours in some children with Beckwith-Wiedemann syndrome and children should be seen regularly to screen for these.

Inheritnace patterns and prenatal diagnosis View Inheritnace patterns and prenatal diagnosis

Medical text written November 1993 by Dr M Elliot, Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge UK. Last updated July 2006 by Professor E R Maher, Professor of Medical Genetics, Department Medical and Molecular Genetics, University of Birmingham Medical School, Birmingham, UK.

 

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