Children's Hospital Colorado
Colorectal and Urogenital Care

Anorectal Malformations

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What are anorectal malformations?

An anorectal malformation occurs when the anus and rectum do not develop properly. The anus is the opening at the end of the large intestine where stool exits the body. The rectum is the area of the large intestine located just above the anus.

Normally, stool passes from the large intestine to the rectum and then to the anus. Nerves in the anal canal help us sense the need for a bowel movement and stimulate muscle activity. Muscles in this area help control when we have a bowel movement.

Types of anorectal malformations

There are several types of anorectal malformations:

  • Recto-perineal fistula: The anal passage may be narrow or located in the wrong place.
  • Recto-vestibular fistula: An abnormal opening called a fistula is located right behind the vagina.
  • Rectal atresia: The rectum does not connect to the anus.
  • Imperforate anus without a fistula: There is no anus and no connection to the urinary tract or reproductive system.
  • Cloaca: The urethra, vagina, and rectum are joined as a common channel instead of three separate ones.
  • The anus may not develop fully, leaving a membrane over the anal opening.
  • The rectum may connect to part of the urinary tract or the reproductive system through an abnormal opening called a fistula, and an anal opening is not present.

Who gets an anorectal malformation?

The exact cause of anorectal malformations is unknown. Anorectal malformations are defects that usually develop between the fifth and seventh week of fetal development.

Approximately one in 5,000 children are born with an anorectal malformation. It is slightly more common in males than in females. This disorder should be immediately diagnosed at birth and correctly treated to achieve the best outcomes.

Medical conditions associated with anorectal malformations

About 50% of babies with anorectal malformations have other medical conditions. These commonly include:

  • Spinal abnormalities, such as absent vertebra (small bones that make up the backbone), hemivertebra (part of one vertebra or more do not form completely), and tethered spinal cord
  • Kidney and urinary tract malformations, such as vesicoureteral reflux, horseshoe kidney, an absent kidney and duplication of parts of the urinary tract
  • Congenital heart defects
  • Tracheal and esophageal defects and disorders
  • Limb (particularly forearm) defects
  • Down syndromeHirschsprung disease and duodenal atresia

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