Imperforate Anus/Congenital Anorectal Malformation
Imperforate anus is a congenital (from birth) problem that means that there is no opening at the anus to allow stool to come through. While a surgical opening can be created, there are a few other questions that will need to be answered when this is listed on a medical file for a child.
First, are the sphincters or muscles there that are needed for continence? It may be surgically possible to open the anus at the correct position but it is often not possible to create sensation and muscles that will allow them to control their bowels and have traditional stooling. In children who are under 2-3 years old, we don’t expect them to have control over their bowel/bladder functions yet so we won’t know what their statusmay be. In older children, we will know more about their potential to have traditional continence, prior to adoption. Long term studies indicate that up to 93% of people born with imperforate anus eventually achieve “socially acceptable” continence1 be even higher now with better surgical repair techniques.2
Some of these repairs later in life can include the Antegrade Continence Enema (ACE) procedure, colostomy and/or enema regimens (bowel management programs). These typically involve surgical procedures that usually involve a 1-2 day hospital stay and then training for the parent and child to manage the bowel regimen. It can improve the quality of life for children who have otherwise not been able to achieve continence to that point.
Next, there are potential syndromes that can include imperforate anus. With syndromes, comes the chance that other organs systems, bones or the brain may also be affected. One example would be Townes-Brock syndrome that also includes hearing loss and thumb abnormalities. Another issue that is not a syndrome but is a group of associated issues is called VACTERL sequence. This can include one or more other associated problems from the following: 3
- V- Vertebral (spine): Hemivertebrae or extra vertebral bodies
- A- Anal: Anal atresia (missing that normal opening that allows stool to exit)
- C-Cardiac: (Typically minor) heart defects
- TE- tracheoesophageal (wind/breathing, and feeding pipe): There can be fistulas (abnormal connections between the two pipes) or atresia (blockage in one or both pipes)
- R-Renal (Kidney): Agenesis (missing), hypoplasia (underdeveloped), cysts, obstruction
- L- Limb (hand, feet, arms, legs): radial reduction (absence or shortened, missing) or extra fingers or toes.
While some of these are fairly obvious shortly after birth (ie. extra fingers or significant feeding or choking problems), other things that have to do with the kidneys, spine or heart may be more subtle. As an example, 36% of children with anal atresia have associated myelodysplasia or issues with their spinal columns that will need to be addressed surgically.4 Most countries cannot or will not be able to do other imaging or blood work to tell us whether there are other issues that may need to be addressed so these are issues that would need further investigation when the child comes to their adoptive home.
While this will take a leap of faith by a family to continue to pursue further workups and ways for the child to achieve continence, many children with imperforate anus have the ability to learn, grow and bone with their adoptive family.
- Imperforate anus: Not a common medical problem seen in referrals- Most frequently seen from the China special needs list.
- Surgically correctable and continence is achieved in the majority of repairs
- Can be accompanied by other medical issues (ex. VACTERL) which may not be fully diagnosed until the child comes home and can have further testing.
- Kiesewetter WB, Chang JH. Imperforate Anus: a five to thirty year follow-up perspective. Prog Pediatr Surg. 1977;10:111-120.
- Sinha CK, Grewal A, Ward HC. Antegrade continence enema (ACE): current practice. Pediatr Surg Int. 2008;24(6):685-688.
- Czeizel A, Ludanyi I. An aetiological study of the VACTERL-association. Eur J Pediatr. 1985;144(4):331-337.
- Long FR, Hunter JV, Mahboubi S, Kalmus A, Templeton Jr JM. Tethered cord and associated vertebral anomalies in children and infants with imperforate anus: evaluation with MR imaging and plain radiography. Radiology. 1996;200(2):377-382.
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Daniel A. Saltzman MD, PhD
Chief, Pediatric Surgery
Arnold S. Leonard, M.D., Ph.D. Endowed Chair in Pediatric Surgery
Fellow - American College of Surgeons
Fellow - American Academy of Pediatrics