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What is omphalocele? 

Omphalocele – which may also be referred to as exomphalos – is a rare birth defect. When a child is born with omphalocele, they have issues with the abdominal wall that causes organs like the liver or intestines to stick out of the abdomen through the belly button. The only covering of the organs is a thin and transparent sac. One of every 4,000 to 7,000 newborns is impacted.

What are the symptoms of omphalocele?

The major symptom of this defect is the organs that form on the outside of the abdominal wall. This symptom is variable, as some babies only have a small omphalocele whereas others have multiple organs formed on the outside of the abdominal wall. Typically the liver, spleen, and intestines are affected. 

Otherwise, symptoms may include poor lung development, Beckwith-Wiedemann syndrome, malformations of the heart, blocked blood flow to the impacted organs, intestines that are slow to digest food, and chromosomal abnormalities. 

What causes omphalocele?

This rare birth defect occurs during fetal development when the abdominal wall does not form correctly. During the normal process, the intestines extend past the umbilical cord and then return into the abdominal cavity by week 11 of gestation. When there is an issue in this process, a baby is born with omphalocele. 

How is omphalocele diagnosed?

A diagnosis comes either during a pregnancy or right after birth. For the former, prenatal tests (e.g., ultrasound, serum tests, blood tests) may catch the rare defect. For the latter, doctors will notice the physical symptoms immediately following birth. 

What are the treatments for omphalocele?

Treatment varies depending on the specific case and the child’s individual symptoms. Surgery is a major option, which is typically conducted right after birth if the omphalocele is small. If it’s larger, the procedure may have to happen in stages. Doctors will treat any other symptoms that appear as well, and monitoring is typically very important. 

Where can I find out more about omphalocele?

Omphalocele Articles