Anorectal malformation (atresia ani) is a congenital defect that occurs during fetal development. In this condition, the anus is not fully formed, preventing stool from exiting the rectum normally.
About 1 in every 5,000 babies is born with imperforate anus or other abnormalities of the anus and rectum. The condition is more common in boys than girls. In baby girls with imperforate anus, the rectum, bladder, and vagina may sometimes merge into one opening called a cloaca.
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Causes of Imperforate Anus
This condition develops between the fifth and seventh week of pregnancy, but the exact cause is still unknown. Many infants with this condition also present with other rectal abnormalities.
Doctors can usually diagnose imperforate anus immediately after birth. It is a serious defect that requires prompt treatment. Most babies will need surgery to correct the condition, and the prognosis after surgery is generally very good.
Symptoms of Imperforate Anus
Signs of imperforate anus are usually evident right after birth. Symptoms may include:
- Absence of an anal opening
- Anal opening located in the wrong place, such as too close to the vagina
- No stool passed within the first 24–48 hours of life
- Stool coming out through an abnormal passage, such as the urethra, vagina, scrotum, or base of the penis
- Swollen abdomen
- Presence of an abnormal connection (fistula) between the rectum and the urinary or reproductive system
Around half of babies born with imperforate anus also have other congenital abnormalities, such as:
- Kidney and urinary tract malformations
- Spinal defects
- Tracheal (airway) malformations
- Esophageal abnormalities
- Limb abnormalities (arms and legs)
- Down syndrome, a chromosomal condition characterized by developmental delays, intellectual disability, distinctive facial features, and low muscle tone
- Hirschsprung disease, a condition where nerve cells in the large intestine fail to develop properly
- Duodenal atresia, a developmental defect in the first part of the small intestine
- Congenital heart disease
How is Imperforate Anus Diagnosed?
Doctors usually diagnose the condition through a physical exam immediately after birth. To assess the severity, additional tests may be performed, such as:
- Abdominal X-ray to check intestinal abnormalities
- Abdominal ultrasound
- Spinal X-ray to detect vertebral abnormalities
- Spinal ultrasound to evaluate spinal cord defects
- Echocardiogram to detect heart problems
- MRI to check for esophageal abnormalities or possible fistula connections to the trachea (airway)
Treatment for Imperforate Anus
Almost all cases of imperforate anus require surgery. In some cases, more than one surgical procedure may be needed. Sometimes, doctors may first perform a temporary colostomy to allow the baby to grow before definitive surgery.
In a colostomy procedure, the surgeon creates two small openings (stomas) in the baby’s abdomen. The lower part of the intestine is connected to one stoma, while the upper part is connected to the other. Waste exits the body through the stoma into a special external bag.
The type of corrective surgery depends on the details of the malformation, including how far the rectum extends, how the surrounding muscles are affected, and whether a fistula is present.
- Perineal anoplasty: The surgeon closes the fistula so the rectum no longer connects to the urethra or vagina, and then creates a new anal opening in the correct position.
- Pull-through procedure: The surgeon pulls the rectum down and connects it to the newly created anus.
To prevent the new anus from narrowing, regular stretching (anal dilatation) is usually required. This process may take several months, and parents can be trained by doctors to perform it at home.
Pediatric Surgeon at Mandaya Royal Hospital Puri for Complex Conditions
Mandaya Royal Hospital Puri is home to one of Indonesia’s leading pediatric surgeons, dr. Sastiono, Sp.B Subsp.Ped(K), who is highly experienced in treating rare and complex pediatric surgical conditions.
dr. Sastiono completed his subspecialty training in pediatric surgery at the Faculty of Medicine, Universitas Indonesia (FK UI), including PPDS, PPDU, and Consultant Pediatric Surgery programs.
He has extensive experience in pediatric liver transplantation and deep expertise in hepatobiliary surgery, which involves surgical treatment of the liver, gallbladder, bile ducts, and pancreas.
In addition to imperforate anus, dr. Sastiono is skilled in managing various pediatric surgical conditions, including:
- Biliary atresia (blocked bile ducts in infants)
- Anorectal malformation (imperforate anus)
- Hirschsprung disease
- Pediatric hernia
- Appendicitis in children
- Intestinal obstruction in children
- Various pediatric liver disorders
Consultation Schedule with dr. Sastiono at Mandaya Royal Hospital Puri:
- Tuesday: 10:00 – 13:00 WIB
- Thursday: 10:00 – 13:00 WIB
If you would like to consult with Dr. Sastiono, you are welcome to visit Mandaya Royal Hospital Puri.
For your convenience, you can use the WhatsApp Chat, Book Appointment, or Care Dokter App (available on Google Play and App Store) to book visits, check queue numbers, and access complete hospital information.