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Omphalocele

Orpha number ORPHA660
Synonym(s) -
Prevalence 1-5 / 10 000
Inheritance Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q79.2
ICD-O -
OMIM
UMLS
  • C0795690
MeSH -
MedDRA
  • 10030308
SNOMED CT
  • 18735004

Summary

Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

Prevalence is estimated at about 1/8,500 births. Associated malformations affect almost 1 in 2 patients and include in particular craniofacial and cardiac malformations or chromosomal anomalies (trisomies 13, 18, 21).

Omphalocele is involved in many polymalformative syndromes, in particular in Beckwith-Wiedemann syndrome (see this term). The size of the abdominal opening ranges from a simple hernia of the cord containing a few intestinal loops to giant omphaloceles in which a large part of the liver protrudes.

Omphalocele is due to the defective closure of the abdominal wall in the embryo before 9 weeks of gestation, i.e. 11 weeks of amenorrhea.

Diagnosis is usually made before birth by ultrasound. Associated malformations can then be sought for and management of the infant can be timely prepared in specialized units.

Differential diagnosis includes gastroschisis (see this term).

Management is surgical and aims to close the abdominal opening and return the protruding viscera to the abdomen.

The prognosis of an isolated omphalocele - when it is not giant - is good if surgery can be early performed in good conditions. Recent improvements to resuscitation and surgical techniques (through abdominal prostheses) have notably improved the prognosis of giant omphaloceles over the last three decades.

Expert reviewer(s)

  • Pr Frédéric BARGY

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