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.

Inheritance patterns
Only a minority of cases (approximately fifteen per cent) are familial but inheritance is complex. Families should be seen by a clinical geneticist.

Prenatal diagnosis
In many cases no specific diagnosis is possible but ultrasound screening may be helpful.

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.

BECKWITH-WIEDEMANN SUPPORT GROUP

Beckwith-Wiedemann Support Group
The Drum and Monkey
Hazelbury Bryan
Sturminster Newton
DT10 2EE
Tel: 07889 211000 (mobile - day)
Tel: 01258 817573 (evenings)
e-mail: rbaker5165@aol.com
Web: http://www.bws-support.org.uk

This is a small support group started in 1988. It offers support by telephone and letter. Activities include co-operation with researchers at Birmingham University and Great Ormond Street Hospital. It publishes an occasional newsletter and has information available, details on request. The Group has nearly 200 members.

Group details last updated August 2007.