What is an omphalocele?

An omphalocele is a congenital (present at birth) abnormality in which the organs of the abdomen stick out through an opening in muscles in the area of the umbilical cord. These organs are covered by a transparent membrane called the peritoneum.

The omphalocele may be small, with only a portion of the intestine sticking out of the abdominal cavity, or large, with most of the abdominal organs (including intestine, liver, and spleen) outside. More than two-thirds of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.

Babies born with an omphalocele frequently have other complications including:

  • Poor lung development
  • Intestines that are slow to handle food
  • Heart malformations (20 percent)
  • Beckwith-Wiedeman Syndrome (a condition typified by a large tongue, high insulin and low blood sugar)
  • Chromosomal abnormalities

What causes an omphalocele?

It is not known what causes an omphalocele, or whether the mother can do anything during pregnancy to prevent it. Between the 6th and the 10th weeks of pregnancy, the intestines actually bulge into the umbilical cord as they are growing. By the 11th week of development, the intestines should return to the abdomen. When this fails to happen, an omphalocele occurs.

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