Omphalocele Associated Defects

Omphalocele pronounced uhm fa lo seal is a birth defect of the abdominal belly wall. 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.

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11 12 cardiac defects are the most commonly associated organ anomaly associated with omphalocele seen in 7 50 of omphalocele patients.

Omphalocele associated defects. Defects include genetic problems chromosomal abnormalities congenital diaphragmatic hernia and heart and kidney defects. Otopalatodigital syndrome type ii. Approximately 70 of omphaloceles are associated with elevations in maternal serum alpha fetoprotein msafp.

Omphalocele is a congenital anterior abdominal wall defect in which the intestines are covered by peritoneum and amniotic membranes. Omphalocele can be associated with single gene disorders neural tube defects diaphragmatic defects fetal valproate syndrome and syndromes of unknown etiology. Associated abnormality that usually occurs with omphalocele is cleft palate and spinal deformity but other less common abnormalities have also been reported.

1 2 11 13 as omphaloceles generally result from failure of the lateral abdominal wall folds to come together when cephalic fold defects are also involved omphalocele may be seen in the setting of pentalogy of. Omphalocele results when the physiologic herniation of the embryonic gut into the umbilical cord fails to return to the abdominal cavity. Omphalocele is frequently associated with genetic syndromes and chromosomal abnormalities.

How many children have omphalocele. Approximately 15 of live born infants with omphalocele have chromosomal abnormalities. Omphaloceles also known as exomphalos rare plural.

This article provides a comprehensive review of omphalocele related disorders. The infant s intestines liver or other organs stick outside of the belly through the belly button. Additional cardiac defects that have been associated with omphalocele are ectopia cordis tetralogy of fallot and tricuspid atresia.

The condition results from the failure of the midgut to return to the abdominal cavity by 10 weeks gestation. Omphalocele is a life threatening problem requiring immediate treatment. The organs are covered in a thin nearly transparent sac that hardly ever is open or broken.

Omphalocele is frequently associated with other defects such as imperforate having no opening anus urinary problems heart problems and genetic defects. Exomphali are congenital midline abdominal wall defects at the base of the umbilical cord insertion with herniation of gut or occasionally other structures out of the fetal abdomen. These problems also affect the overall outlook prognosis for the baby s health and survival.

Infants with an omphalocele often have other birth defects.

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