Anorectal Malformation

Anorectal malformations are birth defects, or problems that happen as an unborn baby is developing during pregnancy. With this defect, the anus and rectum don’t develop properly. They are the lower part of the digestive tract. Ano means the anus.

Cause Of Anorectal Malformation

Most of the time, the cause for an anorectal malformation is unknown. Anorectal malformation may be seen with some of these genetic syndromes or congenitalproblems: VACTERL association (a syndrome in which there are Vertebral, Anal,Cardiac, Tracheal, Esophageal, Renal, and Limb abnormalities)

With an anorectal malformation, several problems can occur. These include:

  • The anal passage may be narrow
  • The anal opening may be covered with a tissue or membrane
  • The rectum may not connect to the anus
  • The rectum may connect to part of the urinary tract or the reproductive system. This happens through a passage called a fistula.

Which children are at risk for an anorectal malformation?

Anorectal malformation may be seen with some genetic syndromes or congenital problems that are present at birth. These include:

  • VACTERL association. This disorder includes problems with the spine, anus, heart, trachea, esophagus, kidneys, and arms and legs.
  • Digestive system problems
  • Urinary tract problems
  • Spinal problems
  • Down syndrome
  • Townes-Brocks syndrome. This syndrome includes problems with the anus, kidneys, ears, and arms and legs.

What are the symptoms of an anorectal malformation in a child?

Anorectal malformations cause problems with how a child has a bowel movement. Most anorectal malformations are found before a newborn leaves the hospital. If the problem is not found in the hospital, symptoms may include:

  • Lack of stool
  • Stool coming from the vagina
  • Urine coming from the anus
  • Trouble having a bowel movement, or constipation

How is an anorectal malformation diagnosed in a child?

Your child’s healthcare provider will do a physical exam when your baby is born. The provider will look at your child’s anus to see if it is open. Your child may also have imaging tests such as:

  • Abdominal X-rays. This test makes images of internal tissues, bones, and organs.
  • Abdominal ultrasound. This test uses high-frequency sound waves and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are used to see internal organs and to check blood flow through different vessels.
  • CT scan. This test uses X-rays and a computer to make images of any part of the body. This includes the bones, muscles, fat, and organs. A CT scan is more detailed than a general X-ray. Older children may have a general X-ray.
  • MRI. This test uses a magnetic field and radio waves to make detailed images of organs and structures in the body. Older children may have this test.
  • Lower GI or gastrointestinal series, also called a barium enema. This test checks the rectum, the large intestine, and the lower part of the small intestine. A metallic, chalky fluid called barium is put into the rectum as an enema. It coats the inside of organs so that they will show up on an X-ray. An X-ray of the belly or abdomen shows narrowed areas called strictures, blockages, and other problems.
  • Upper GI or gastrointestinal series, also called barium swallow. This test checks the organs of the upper part of the digestive system. That includes the food pipe or esophagus, the stomach, and the first section of the small intestine, called the duodenum. A metallic, chalky fluid called barium is swallowed. It coats the inside of organs so that they will show up on an X-ray. Then X-rays are taken to check the digestive organs.