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Diseases

Genetic and Rare Diseases Information Center (GARD)

Imperforate anus


Other Names for this Disease
  • Anal atresia
  • Anal stenosis
  • Anorectal Malformations
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Overview

Imperforate anus is a defect that is present from birth (congenital). The opening to the anus is missing or blocked. The anus is the opening to the rectum through which stools leave the body. Imperforate anus may end in a pouch, or open in other structures or be too narrow (stenotic or atresic).[1] Although the exact cause is not known yet, it is due to the abnormal development of the rectus when the embryo is forming inside the womb. Many forms of imperforate anus occur with other birth defects. Symptoms include absence of the first stools within 24 to 48 hours after birth, anal opening in an abnormal place, with stool passing out of the vagina, base of penis, scrotum, or urethra very near the vagina and swollen belly area. Surgery to correct the defect is needed.[1][2]
Last updated: 7/27/2016

References

  1. Ano imperforado. MedlinePlus. 2015; https://medlineplus.gov/ency/article/001147.htm.
  2. Rosen NG. Pediatric Imperforate Anus. Medscape Reference. November 17, 2014; http://emedicine.medscape.com/article/929904-treatment#d6.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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. 
Other Names for this Disease
  • Anal atresia
  • Anal stenosis
  • Anorectal Malformations
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.