What is an imperforate anus?
Imperforating anus is a congenital malformation in which the anus is open from the anus is missing or blocked. This occurs while your baby is still growing into the uterus. If This type of defect means that your baby has a poorly developed anus, and thus cannot pass bowel movements normally from their rectum out of their body.
According to Cincinnati Children’s Hospital, approximately 1 in 5,000 infants has an imperforate anus or other anus or rectal defect. This happens more often among boys than girls. The rectum, bladder and vagina of a female baby whose anus is imperforate sometimes have a large shared opening. This opening is called a cloaca.
The condition develops in the uterus between the 5th and 7th week of pregnancy. The reason is unclear. Babies with this disorder often develop other rectal defects.
In general, doctors may diagnose this condition sometimes after birth. This is a very serious condition which should be treated immediately. In most cases, surgical intervention is necessary to repair the defect. The next step in surgery is very positive.
What are the symptoms of an imperforate anus?
Indications of imperforate anus are usually clear shortly after birth. They include:
- No opening in the anal.
- an abnormal connection, or fistula, between the baby’s rectum and the baby’s reproductive system or urine tract.
- An anal opening in the wrong location, for example too near to the vagina.
- stools that cross the wrong area, such as the urethra, vagina, scrotum or the base of the penis.
- a swollen abdomen
Approximately half of all babies born with the imperforate anus have extra defects. A few of them can be:
- renal and urinary tract abnormalities.
- defects of the spine
- windpipe, or tracheal, defects
- esophageal abnormalities
- defects in both arms and legs.
- Down syndrome, which is a chromosomal condition having cognitive retardation, mental disability, a characteristic aspect of the face and low muscle tone.
- Hirschsprung’s disease, which is a condition involving the absence of nerve cells from the large intestine causing issues with passing stool.
- duodenal atresia, in other words the complete absence or closure of the first part of the small intestine.
- congenital heart defects
What is the diagnosis of an imperforate anus?
A physician can often diagnose an anal imperforate by conducting a physical examination after birth. Abdominal radiography (X-Ray) and abdominal ultrasound may help confirm the level of abnormalities.
After the diagnosis of imperforate anus, your baby’s physician should also test for other abnormalities associated with this condition. These tests can be done:
- X-rays spinal cord recognition for bone abnormalities.
- spinal ultrasound to verify abnormalities in the spine, or bones of the spine
- echocardiogram looking for heart anomalies
- MRI is looking for signs of esophageal abnormalities like the formation of fistulas with the trachea, or the trachea.
What treatments do you use for an imperforate anus?
It almost always requires a surgical procedure. Several procedures may be necessary to correct the problem. A transient colostomy can also enable your baby to develop prior to surgery.
In case of colostomy, your baby’s surgeon makes two little openings, or stoma, in the abdomen. They attach the bottom of the intestines to one opening and the top of the intestines to the other. A pouch attached to the exterior of the body is designed to receive waste.
The type of corrective surgery needed will depend upon the specificities of the defect, like your baby’s rectum coming down, how it affects the muscles around him and whether fistulas are involved.
With perineal anoplasty, your baby’s surgeon closes the fistulas so that the rectum’s attachment to the urethra or vagina closes. They then do one anus with a normal positioning.
Your baby’s surgeon takes the rectum off and attaches it to the new anus.
To avoid shrinkage of the anus, it may be necessary to stretch it regularly. It is known as anal dilation. You may need to repeat this periodically for a few months. Your doctor may instruct you to do this at home.
Long term outlook?
Your doctor will tell you how to perform anal dilations. They confirm that the anal opening is large enough for the stool to cross.
Some children will experience constipation issues. Training in the toilet can take a little more time. Stool or Bowel softeners, enemas and laxatives may be necessary to relieve constipation later in life. Surgery can often correct abnormalities, and most children manage quite well.
A high-fiber diet and regular monitoring throughout childhood are helpful.