Imperforate Anus – Newborn Baby Missing Anal Opening

The chosen route of treatment will depend on many factors, such as the baby's gender and birth weight, the degree and type of the malformation, and if other malformations are present.

Other disorders associated with anorectal malformations / imperforate anus are:

  • spinal abnormalities* – tethered cord, hemivertebra (only one side of the vertebral body develops), absent vertebra, syringomyelia (cyst within the spinal cord), myelomeningocele (where the backbone and spinal canal do not close before birth as is commonly seen in cases of spina bifida)…bones growing in a curve or having extra bones or missing bones, such as extra ribs or missing ribs
  • kidney and urinary tract malformations
  • congenital heart defects**
  • tracheal and esophageal defects and disorders
  • limb (particularly forearm and the absence of thumbs) defects

Down syndrome, Hirschsprung's disease and duodenal atresia (issue with small bowel) can also be associated with anorectal malformation. Approximately 50% of babies with anorectal malformations / imperforate anus have other coexisting abnormalities. Most commonly associated defects include urinary tract, spine, and sacrum.

Also see VACTERL association (VACTERL is an acronym that stands for Vertebral Anal Cardiac Tracheal Esophageal Renal (kidneys) / Radial Limb and indicates a syndrome where there are multiple associated abnormalities in areas of that list…previously referred to as VATER, however that term didn't allow for the cardiac and limb deformities often seen. Sometimes an S is added to the VACTERL or VATER acronym (VACTERLS / VATERS) to indicate a single umbilical artery instead of the normal two.)

According to

Anal atresia or imperforate anus is seen in about 55 percent of patients with VATER association.

* An ultrasound of the spine should be done to check for tethered cord. It has further been recommended that children born with anorectal malformations are screened for tethered cord with an MRI after three months in age to rule out the presence of tethered cord and other spinal anomalies.

** A thorough cardiac evaluation with an echocardiogram should be done before any surgery.

It has been reported that for babies who have genetic syndromes, chromosomal abnormalities, or other congenital defects, one third of them also have anorectal malformations.

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