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Diseases

Genetic and Rare Diseases Information Center (GARD)

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


Other Names for this Disease
  • 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
Related Diseases
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Overview

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.[1][2] 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.[3] 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. The cause for this malformation is unknown. Treatment involves surgical repair of each malformation.[2]
Last updated: 3/9/2016

References

  1. Cloacal exstrophy. Orphanet. March, 2010. Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93929. Orphanet. March, 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93929.
  2. Yerkes EB. Exstrophy and Epispadias. Medscape Reference. http://emedicine.medscape.com/article/1014971-overview.
  3. Cloacal exstrophy. Urology Care Foundation. 2016; http://www.urologyhealth.org/urologic-conditions/cloacal-exstrophy.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 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
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.