Anal atresia

Dr Henry Knipe and Dr Jeremy Jones et al.

Anal atresia (or imperforate anus) refers to a spectrum of anorectal abnormalities ranging from a membranous separation to complete absence of the anus.

The estimated incidence is 1 in 5000 births.

Clinically there is no anal opening. It can be broadly be classified into high (supralevator) or low (infralevator) subtype depending on location of the atretic portion.

Genetics

Most cases tend to be sporadic with occasional familial forms

Associations

There are frequent associations with other congenital abnormalities.

Abdominal radiograph
  • can be variable depending on the site of atresia (e.g high or low) , level of impaction with meconium and physiological effects such as straining
  • may show multiple dilated bowel loops with with absence of rectal gas
Invertogram

A coin/metal piece is placed over the expected anus and the baby is turned upside down (for a minimum 3 minutes).

Distance of gas bubble in rectum from the metal piece is noted:

  • >2 cm: denotes high type
  • <2 cm: denotes low type
Fluoroscopy: contrast study
  • to detect recto-urinary, recto-vaginal or rectoperineal fistula
  • the fistula is considered low (below levator ani plane) if it is below the pubooccygeal line (PCL) and considered high fistula if above the PCL
Ultrasound
  • the anus may be seen as an echogenic spot at the level of the perineum and in an atresia this echogenic spot may be absent 4
  • may show bowel dilatation
  • an infra coccygeal or transperineal approach may allow differentiation between a high or low subtype 4
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Article Information

rID: 6365
Section: Pathology
Tag: cases
Synonyms or Alternate Spellings:
  • Imperforate anus
  • Atresia of the anus

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    Case 1
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    Case 2: with recto-urethral fistula
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    Case 3: with lateral to confirm position
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    High type anal at...
    Case 4
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