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omphalocele

Friday 27 August 2004

exomphalos; omphalocoele

WKP

Definition: Omphalocele is a rare abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of failure of normal return of intestines and other contents back to abdominal cavity during around ninth week of intrauterine development.

Omphalocele occurs in 1/4,000 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 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.

Associations (Examples)

- Beckwith-Wiedemann syndrome (BWS)
- otopalatodigital syndrome type 2 (OTD2)
- association gondal agenesis , encephalocele , spina bifida , omphalocele (GAESBO ) (9182784)
- exomphalos, short limbs, and macrogonadism (10051012)
- trisomy 1

Subtypes

- giant omphalocele

See also

- abdominal wall defects

References

- Kennerknecht I, Mattfeldt T, Paulus W, Nitsch C, Negri G, Barbi G, Just W, Schwemmle S, Vogel W. XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome. Am J Med Genet. 1997 Jun 27;70(4):413-4. PMID: 9182784