Omphalocele

Omphalocele
Infant before and after surgical treatment for exomphalos.
SpecialtyMedical genetics Edit this on Wikidata
SymptomsVisible organs
Usual onsetCongenital
TreatmentSurgical repair
Prognosisvaries- see below

An omphalocele or omphalocoele, also known as an exomphalos, is a rare abdominal wall defect.[1] Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week.[2][3] Persistence of intestine or the presence of other abdominal viscera (e.g. stomach, liver) in the umbilical cord results in an omphalocele.

Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities. About 30% of infants with an omphalocele have other congenital abnormalities.

  1. ^ CDC (2019-12-05). "Facts about Omphalocele | CDC". Centers for Disease Control and Prevention. Retrieved 2020-12-20.
  2. ^ Mann, Stephanie; Blinman, Thane A.; Douglas Wilson, R. (July 2008). "Prenatal and postnatal management of omphalocele". Prenatal Diagnosis. 28 (7): 626–632. doi:10.1002/pd.2008. ISSN 0197-3851. PMID 18634119. S2CID 206345744.
  3. ^ Blaas, H.-G.; Eik-Nes, S. H.; Kiserud, T.; Hellevik, L. R. (1995). "Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestation: a longitudinal ultrasound study". Ultrasound in Obstetrics & Gynecology. 6 (4): 240–249. doi:10.1046/j.1469-0705.1995.06040240.x. ISSN 1469-0705. PMID 8590186. S2CID 22318659.