Anorectal Malformations | Specialists and Information

Colonic malformation (anal atresia) is a prenatal developmental disorder, meaning it develops in the womb while the baby is still in the mother’s womb. However, the exact cause of this condition remains unknown.

Overall, boys appear to be affected by anorectal malformations slightly more often than newborn girls. However, there is very little data on the prevalence of anorectal malformations due to the lack of centralized registries. According to estimates, 1 in every 4,000 to 5,000 newborns is born with anorectal malformations. Furthermore, up to 85% of anal atresias are characterized by a fistula that creates a connection in the area of the bladder.

In some cases, colorectal malformations occur alongside other developmental disorders, such as congenital heart defects, urinary tract disorders, spinal malformations, or damage to the central nervous system in children.

The large intestine © bilderzwerg #62905994 | AdobeStock

Due to the absence of an anal opening, newborns develop a distended abdomen just a few days after birth. This is accompanied by signs of intestinal obstruction. The children eventually suffer from severe regurgitation, followed by vomiting of stomach contents and, ultimately, vomiting of feces.

Without surgery, these children die within a few days of birth.

Colonic malformation cannot be reliably detected by ultrasound before birth. Therefore, doctors will typically first perform a comprehensive physical examination of the newborn. If a clear diagnosis cannot yet be made, an abdominal barium enema should be performed within the first day of life.

In addition, other specialized tests are available, such as voiding cystourethrography or an ultrasound examination of the rectum. If there is also suspicion of accompanying symptoms, physicians have access to procedures such as magnetic resonance imaging (MRI).

Treatment of a colonic malformation is possible only through surgery, i.e., with the help of an early operation shortly after birth. The life-saving surgery is usually performed on the child’s very first day of life.

First, the doctors create an artificial bowel opening for the child (proctoplasty). In some cases where the child cannot be treated in a single procedure, the specialists divide the surgery into two separate procedures.

The children first receive an artificial bowel opening on one side of the body (a colostomy). Then, within the first year of life, the doctors create an artificial anus and reconnect the intestine internally to this bowel opening.

As a rule, children will be continent in later adulthood following corrective surgery, meaning they will be able to control their urine and bowel movements. However, mild incontinence with traces of leakage in their underwear cannot be entirely avoided. For children and adolescents, however, this often causes significant psychological stress.

In cases of mild incontinence, you should try to perform a bowel irrigation while sitting on the toilet. This allows those affected to alleviate the symptoms of incontinence while simultaneously improving their social and psychological well-being. However, it is precisely these psychosocial aspects of the condition and their significance for children’s quality of life that are very often underestimated.

Colonic malformations are serious developmental disorders in newborns that require immediate surgical treatment. Specialists trained to treat these conditions include pediatric surgeons as well as general surgeons.