TL;DR: An omphalocele is a rare congenital abdominal wall defect where an infant's intestines, liver, or other organs protrude outside the belly through the umbilical cord. Because these organs are covered by a thin, transparent sac, the condition is distinct from gastroschisis, where the organs are exposed without a protective covering. What exactly is an omphalocele? An omphalocele occurs during fetal development when the abdominal wall fails to close properly, causing internal organs to remain in a sac outside the body. This condition is a primary structural concern at birth, requiring immediate specialized medical attention to protect the exposed organs and prevent infection. While 4 members of the DiseaseMaps community have shared their experiences with an omphalocele, it remains a rare diagnosis that requires a multidisciplinary care team. How common is this condition? The prevalence of an omphalocele is estimated to be approximately 1 in 4,000 to 1 in 7,000 live births. It affects both males and females, though some clinical studies suggest a slightly higher incidence in males. Geographical factors do not typically influence the occurrence of an omphalocele, as it is a developmental issue occurring early in the first trimester. How is an omphalocele classified? Clinicians generally categorize an omphalocele based on the size of the defect and the organs involved: Small omphalocele: Typically contains only a small portion of the intestines. Giant omphalocele: Defined as a defect larger than 5 cm, often containing the liver and other major abdominal organs. What causes this condition and how does it differ from others? The underlying mechanism involves the failure of the abdominal muscles to fuse during the first 10 weeks of pregnancy. A key factor that differentiates an omphalocele from other abdominal wall defects is the presence of the peritoneal sac. Unlike gastroschisis, where the bowel is free-floating in amniotic fluid, the sac in an omphalocele provides a layer of protection, though it may be associated with other genetic syndromes or chromosomal abnormalities that require thorough diagnostic evaluation. Next steps Consult a pediatric surgeon or neonatologist immediately to discuss surgical repair options. Request a referral to a clinical geneticist to rule out associated syndromes. Join a supportive rare disease community, such as DiseaseMaps.org, to connect with others who have navigated this diagnosis. Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a qualified healthcare provider. References NIH Genetic and Rare Diseases Information Center (GARD): Omphalocele Orphanet: Rare disease database - Omphalocele National Organization for Rare Disorders (NORD): Omphalocele information page OMIM (Online Mendelian Inheritance in Man): Clinical features and genetic data

Short answer · Medically reviewed summary · Last updated: 2026-05-08

TL;DR: An omphalocele is a rare congenital abdominal wall defect where an infant's intestines, liver, or other organs protrude outside the belly through the umbilical cord. Because these organs are covered by a thin, transparent sac, the condition is distinct from gastroschisis, where the organs are exposed without a protective covering. What exactly is an omphalocele? An omphalocele occurs during fetal development when the abdominal wall fails to close properly, causing internal organs to remain in a sac outside the body.

What is Omphalocele

Name: What is Omphalocele
Creator: DiseaseMaps Editorial Team
Published: 2016-11-21UTC02:09:09.0000000

What is Omphalocele? Plain-language, medically reviewed definition plus the lived reality told by patients.

TL;DR: An omphalocele is a rare congenital abdominal wall defect where an infant's intestines, liver, or other organs protrude outside the belly through the umbilical cord. Because these organs are covered by a thin, transparent sac, the condition is distinct from gastroschisis, where the organs are exposed without a protective covering.

What exactly is an omphalocele?

An omphalocele occurs during fetal development when the abdominal wall fails to close properly, causing internal organs to remain in a sac outside the body. This condition is a primary structural concern at birth, requiring immediate specialized medical attention to protect the exposed organs and prevent infection. While 4 members of the DiseaseMaps community have shared their experiences with an omphalocele, it remains a rare diagnosis that requires a multidisciplinary care team.

How common is this condition?

The prevalence of an omphalocele is estimated to be approximately 1 in 4,000 to 1 in 7,000 live births. It affects both males and females, though some clinical studies suggest a slightly higher incidence in males. Geographical factors do not typically influence the occurrence of an omphalocele, as it is a developmental issue occurring early in the first trimester.

How is an omphalocele classified?

Clinicians generally categorize an omphalocele based on the size of the defect and the organs involved:

Small omphalocele: Typically contains only a small portion of the intestines.

Giant omphalocele: Defined as a defect larger than 5 cm, often containing the liver and other major abdominal organs.

What causes this condition and how does it differ from others?

The underlying mechanism involves the failure of the abdominal muscles to fuse during the first 10 weeks of pregnancy. A key factor that differentiates an omphalocele from other abdominal wall defects is the presence of the peritoneal sac. Unlike gastroschisis, where the bowel is free-floating in amniotic fluid, the sac in an omphalocele provides a layer of protection, though it may be associated with other genetic syndromes or chromosomal abnormalities that require thorough diagnostic evaluation.

Next steps

Consult a pediatric surgeon or neonatologist immediately to discuss surgical repair options.

Request a referral to a clinical geneticist to rule out associated syndromes.

Join a supportive rare disease community, such as DiseaseMaps.org, to connect with others who have navigated this diagnosis.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a qualified healthcare provider.