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Beckwith-Wiedemann syndrome

Background

Beckwith-Wiedemann syndrome: 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 ER Maher, Professor of Medical Genetics, Department Medical and Molecular Genetics, University of Birmingham Medical School, Birmingham, UK.

 

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