Omphalocele describes the herniation of abdominal viscera into the umbilical cord through a central defect at the base of the cord. The herniation of the abdominal organs into the cord is a normal part of the early development of the abdominal cavity. However, this defect occurs when the organs fail to migrate back into the abdomen. The incidence of this defect is 1 in 5000 live births (intestines) to 1 in 10,000 live births (intestines and liver).
Though not caused by a known genetic mutation, omphalocele is commonly associated with other congenital defects and prematurity. These include cardiac defects, respiratory insufficiency due to underdeveloped chest wall and lungs, and chromosomal trisomies. Omphalocele is one of the defining defects of Beckwith-Wiedemann syndrome as well as macrosomia, macroglossia and organomegaly.
Other References
- Abdominal Wall Defect - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health Link
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