Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex

Other Names: OEIS complex; Cloacal exstrophy; Omphalocele - cloacal exstrophy - imperforate anus - spinal defect; Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome; Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects; Cloacal exstrophy sequence

OEIS complex, also known as cloacal exstrophy, is the most severe birth defect within the exstrophy-epispadias complex. It is characterized by Omphalocele, Exstrophy, Imperforate anus and Spinal defects.

Cause

The cause for this malformation is unknown.The defect occurs when the baby is developing inside the uterus during the first trimester of pregnancy, and seems to be due to the rupture of a tissue known as the cloacal membrane which results in the abnormal development of the abdominal wall and other malformations. The timing of the rupture determines the severity of the disorder.

Signs and symptoms

A child with this condition will have the bladder and a portion of the intestines exposed outside the abdomen with the bony pelvis open like a book. In males, the penis is either flat and short or sometimes split. In females, the clitoris is split and there may be two vaginal openings. Also, frequently the intestine is short and the anus is not open (anus imperforate). There is a high association with other birth defects, especially spina bifida, which occurs in up to 75% of cases. Omphalocele, a defect of the abdominal wall in the region of the umbilicus, is also common, as are kidney abnormalities.

Diagnosis

OEIS complex may be difficult to diagnose prenatally, and the full extent of the abnormalities may not be clear until postnatal examination. Confusion with LBWC and Pentalogy of Cantrell can occur. Additional finding of thoracic defect and absent spine defect may distinguish Pentalogy of Cantrell from OEIS complex on prenatal ultrasonography. The overlap of features found among LBWC and OEIS (cloacal exstrophy) cases represent a continuous spectrum of abnormalities, rather than separate conditions and may also share a common etiology or pathogenetic mechanism.

Treatment

Treatment involves surgical repair of each malformation.

NIH genetic and rare disease info

• NIH info on Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex

Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex is a rare disease.

Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex Resources
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