Request an Appointment Online, or call us at (888) 824-0200

The University of Chicago Medicine - Comer Children's Hospital

Types of Congenital Colorectal Anomalies

Colorectal malformations occur in approximately 1 in every 5,000 births. The most common types of congenital colorectal anomalies are imperforate anus, cloaca and Hirschsprung's disease. Our specialists have expertise in diagnosing and treating these conditions as well as any associated disorders.

Imperforate Anus

Imperforate anus occurs when the rectum does not appropriately connect to the anus or skin. In some children, connections (also known as fistulas) may form between the rectum and another area of skin, the urethra or bladder, or the vagina. The location of the connection to the rectum determines the type of imperforate anus.

Children with imperforate anus are at high-risk of having other congenital anomalies. The grouping of anomalies that often occur together are known as the VACTERL [Vertebrae (spine), Anus, Cardiac (heart), TracheoEsophageal, Renal (kidney) and Limbs (most commonly the arms)] association. Due to the high frequency of these associated anomalies, it is important that children with imperforate anus receive holistic and comprehensive care from a multidisciplinary team of specially-trained experts.

Cloaca

Cloaca is the most complex of the imperforate anus anomalies. Girls with cloaca have a single opening for urine, stool and the vagina. They may also have associated VACTERL anomalies of the bladder, spine, heart, kidney and limbs.

Treating cloaca requires reconstruction of the perineum to create separate openings for the urethra, anus and vagina. It also is important for girls with cloaca to receive coordinated care from experts in related specialties, as these patients often experience altered bowel and bladder function that requires bowel and bladder management and ongoing follow-up.

Hirschsprung's Disease

Hirschsprung's disease is a disorder in which part or all of the large intestine lacks nerve cells, causing stool obstruction and chronic constipation. Infants with Hirschsprung's disease may also present with other congenital or inherited conditions, although associated malformations are less common than in children with imperforate anus.

Treatment for Hirschsprung's disease requires removal of the portions of the colon not containing nerve cells. It is important that infants who undergo this treatment receive close follow-up and ongoing care to ensure proper healing and to reduce the risk of developing an infection as well as chronic constipation or incontinence.