Gastroschisis: Exomphalos

Exomphalos , otherwise known as omphalocoele or omphalocele, is a condition where the umbilicus is abnormally large. In its most severe variant, the umbilicus measures more than 10cm in diameter and the abdominal organs protrude into the base of the umbilical cord. Associated abnormalities, particularly involving the heart, are common.

Gastroschisis is a condition where the intestine protrudes from the abdomen through a hole in the abdomen wall beside the umbilicus.

Gastroschisis is associated with young maternal age, mothers under twenty being twelve times more likely to have infants with Gastroschisis. It is usually not associated with other abnormalities. (The Aetiology of Gastroschisis; Curry J et al British Journal of Obstetrics and Gynaecology 107: 1339-1346; Nov 2000).

Many affected infants will have had the abnormality detected during pregnancy. Early surgery is usually required and the majority of infants survive.

Inheritance patterns
None known

Prenatal diagnosis
Diagnosis can be effected by ultrasound scan.

Medical text written May 1994 by Mr N E Dudley, Consultant Surgeon, John Radcliffe Hospital, Oxford, UK. Last updated November 2006 by Mr J Curry, Consultant Paediatric Surgeon, Great Ormond Street Hospital, London, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

GEEPS (GASTROSCHISIS, EXOMPHALOS, EXTROPHIES PARENTS SUPPORT)

e-mail: geeps@btinternet.com
Web: http://www.geeps.co.uk

GEEPS is a parent support group, established in 1991. It currently offers support for the families of affected children by e-mail and through the web site.

Group details last confirmed February 2008.