ABSTRACT
The terms exomphalos and omphalocele are interchangeable throughout most of the literature. Both are derived from the Greek word omphalos, which means “navel,” “centre,” or “hub.” The term “exomphalos” describes a collection of different abnormalities that have in common the presence of abdominal viscera within an intact sac derived from umbilical cord tissue. The relative rarity of exomphalos has meant that historically it has been treated as one condition for the purposes of institutional reporting. Like other congenital structural anomalies such as ventricular septal defect and hydronephrosis, many of the varieties of exomphalos should be thought of as an anatomical end point of underlying genetic anomalies, rather than a “condition” of itself. Exomphalos itself is a feature of over 70 known malformation syndromes, many with no identifiable genetic cause and, even in the absence of a syndromic pattern, major structural defects affecting other body systems are common. Skin preservation is crucial in major exomphalos.
