Rochester family raises awareness of omphalocele, a rare birth defect

After trying for three years to conceive, the Lewis family was devastated to learn at their first ultrasound that their baby Leo’s internal organs were growing outside his abdomen, a condition called an omphalocele.

An omphalocele is a birth defect of the abdominal wall in which an infant is born with some of its organs sticking outside of the belly through the belly button. The organs are covered in a thin, nearly transparent sac.

Leo’s parents hope that by speaking out about their son’s condition and their experience, they can bring awareness to this condition and possibly help other families.

“Hopefully, this awareness will drive a little bit more interest in the science community to try to figure out ways to deal with this condition, to give the children that have it a little bit more of a normal life after they’ve had their surgeries,” Larry Lewis told

One in 5,000 babies are born with the condition, which can be life-threatening. Babies born with an omphalocele frequently have other complications including poor lung development, intestines that are slow to handle food, heart malformations, and chromosomal abnormalities.

“There’s a period of time early on in development where the abdominal organs actually develop outside of the body, and they’re supposed to retreat back into the abdominal cavity. But when they don’t and they stay outside the body, that leads to an omphalocele,” said Dr. Clint Morrison, a pediatric surgeon at the University of Rochester, who operated on Leo on the first day of his life.

An omphalocele typically develops in the womb before birth. Between six and 10 weeks, a baby’s intestines bulge into the umbilical cord as they grow. This push is normal. However, the intestines typically return to the abdomen after 11 weeks. If that doesn’t happen, an omphalocele develops, according to the Cleveland Clinic.

Leo’s condition was considered very severe, and he also had a heart defect.

“The major risk to the baby is not from the omphalocele, but from the other conditions that also come along with it frequently, including things like congenital heart defects,” Morrison said. “And Leo had a very severe congenital heart defect that had to be taken care of as well when he was a baby.”

It is unknown what causes omphalocele among most infants. Some babies develop an omphalocele because of a change in their genes or chromosomes. Omphalocele might also be caused by other factors, such as exposure to chemicals in the environment, according to the Centers for Disease Control and Prevention. 

CDC researchers recently have reported important findings about some factors that can affect the risk of having a baby with an omphalocele:

  • Alcohol and tobacco: Women who consumed alcohol or were heavy smokers (more than 1 pack a day) were more likely to have a baby with omphalocele.
  • Certain medications: Women who used selective serotonin-reuptake inhibitors (SSRIs) during pregnancy were more likely to have a baby with an omphalocele.
  • Obesity: Women who were obese or overweight before pregnancy were more likely to have a baby with an omphalocele.
  • Toxic Chemicals: Paternal and maternal exposure to toxic chemicals before and during pregnancy has been linked to birth defects.

An omphalocele can be detected through ultrasound or bloodwork before pregnancy. But sometimes it is not found until birth. If the omphalocele is small and only some of the intestine is outside of the abdomen, it usually is treated with surgery soon after birth to put the intestine back and close the opening.

If the omphalocele is large with many organs outside the abdomen, the repair might be done in stages. The exposed organs might be covered with a special material, and slowly, over time, the organs will be moved back into the belly. When all the organs have been put back in the belly, the opening is closed.

The Lewises consider themselves lucky with baby Leo.

“We did have good doctors who literally saved his life. His cardiologist was in the room when he coded and saved his life. And as traumatic and scary as that was for us, we knew that they were doing everything possible for him,” Larry said.

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