The American Journal of Surgery (2015) -, --

Association of anorectal malformation

and intestinal malrotation
Patrick M. Chesley, M.D.a, Lilah Melzer, B.S.b,c,
Miranda C. Bradford, M.S.b,c, Jeffrey R. Avansino, M.D.b,c,*
a

Madigan Army Medical Center, Department of General Surgery, Fort Lewis, WA 98431, USA;
Division of Pediatric General and Thoracic Surgery, Seattle Childrens Hospital, 4800 Sand Point Way
NE, Seattle, WA 98105, USA; cUniversity of Washington School of Medicine, Seattle, WA, USA
b

KEYWORDS:
Anorectal
malformation;
Intestinal malrotation;
Appendicostomy;
Antegrade continence
enema

Abstract
BACKGROUND: Patients born with anorectal malformations (ARM) frequently have other congenital anomalies that are well-defined; however, limited data exist examining the relationship of ARM
with malrotation.
METHODS: A 10-year retrospective review was performed to examine all patients treated at a
regional childrens medical center with a diagnosis of ARM. Data were collected to identify malrotation, vertebral, anorectal, cardiac, tracheo-esophageal fistula, renal, radial, limb (VACTERL) anomalies, the type of ARM, operative procedures performed, and long-term bowel management.
RESULTS: One hundred forty-six patients were identified. Upper gastrointestinal evaluation was performed in 21 patients (14.4%), while contrast enemas were performed in 22 patients (15.1%). Seven patients were found to have malrotation (4.8%) and 6/7 of these patients had 2 or more VACTERL anomalies.
CONCLUSIONS: Patients with ARM and 2 or more VACTERL anomalies should undergo screening
for malrotation. Patients with intestinal malrotation, ARM, and poor potential for bowel control should
have their appendix preserved during a Ladds procedure.
2015 Elsevier Inc. All rights reserved.

Anorectal malformations (ARMs) encompass a spectrum

of diagnoses related to the abnormal development of the
anorectal canal and are present in approximately every 1 in
4,000 to 5,000 births. There are multiple different types of
anorectal malformations present in men and women that
range from low rectoperineal fistulas to much more complex
Support for this study was provided by the National Center for
Advancing Translational Sciences of the National Institutes of Health
(UL1TR000423 and UL1TR000002). The content is solely the responsibility
of the authors and does not necessarily represent the official views of the National Institutes of Health.
* Corresponding author. Tel.: 11-206-987-3241; fax: 11-206-987-3925.
E-mail address: Jeffrey.avansino@seattlechildrens.org
Manuscript received October 29, 2014; revised manuscript December
22, 2014
0002-9610/$ - see front matter 2015 Elsevier Inc. All rights reserved.
http://dx.doi.org/10.1016/j.amjsurg.2014.12.028

long channel cloaca anomalies. Interestingly, anorectal

malformations are also correlated with other anomalies,
which have led to the vertebral, anorectal, cardiac, tracheoesophageal fistula, renal, radial, limb (VACTERL) classification schema, including vertebral, cardiac, renal, and limb
anomalies as well as an association with tracheoesophageal
fistulas.1,2 Given these associations, it is recommended that
these children undergo screening evaluation to ensure that
other anomalies are not present after birth.
Although these associations are well documented, there is
a paucity of data in the literature analyzing the association of
malrotation and anorectal malformations. The incidence of
malrotation in the general population is believed to be 1 in
500, with 85% being diagnosed in the first year of life.3 The
reported incidence of anorectal malformations and intestinal

The American Journal of Surgery, Vol -, No -, - 2015

malrotation is between 5% and 26%, while several other

retrospective studies have a reported incidence of malrotation
of 1.8% to 4.2% in patients with anorectal malformations.46
It is unclear from these studies the indications for the
evaluation of malrotation. As a result, the true incidence is
unknown. Therefore, the aim of this study was to review a single institutions experience with anorectal malformation to
identify the incidence of intestinal malrotation and review
the diagnostic criteria and management of this complex
patient population.

Data analysis

Methods
Data collection
We conducted a retrospective review of electronic
medical records to identify all patients with a diagnosis
of anorectal malformation seen over a 10-year period
(2004 to 2014) at a freestanding childrens hospital. Data
abstracted included ARM type and VACTERL anomalies,
operative procedures, and symptoms and management
strategy for incontinence and constipation. Radiographs
and operative reports were reviewed to determine if
patients had been evaluated for malrotation. For patients
who were evaluated, the indication and method of
evaluation together with the presence or absence of
malrotation was recorded. Malrotation was defined as
failure of the duodenum to cross midline to the left and
reach the level of the pylorus on an upper gastrointestinal
series (UGI) or a cecum located in the right upper
quadrant on contrast enema. Patient records from outside
facilities were not obtained for review; however, their
clinical records from Seattle Childrens Hospital provided
information required for completion of this study. This
study was performed with approval from the Institutional
Review Board (#15069).

Table 1

Descriptive data were presented for patients evaluated

for and diagnosed with malrotation, further classifying by
malformation type and sex. Confidence intervals for proportions were calculated using the Wilson method. We
used the chi-square test as an overall test of association
between outcomes (evaluation for malrotation, presence of
malrotation) and ARM type. Fishers exact test was used to
evaluate the association between radiographic evaluation
and positive tests for malrotation between the specific
imperforate anus subtypes. Fishers exact test was also used
to determine the role of VACTERL anomalies in the
evaluation for malrotation. All testings were 2 sided and
conducted at the .05 level of significance with no
correction for multiple testing. All statistical analyses
were performed using Stata version 12 (StataCorp, College
Station, TX).

Results
One hundred forty-six patients met inclusion criteria and
underwent review of their medical records, which included
74 women (50.7%) and 72 men (49.3%). One hundred
twenty-eight patients had a diagnosis of imperforate anus
(87.7%), 13 with cloaca (8.9%), and 5 with cloacal
exstrophy (3.4%). The remaining demographics can be
seen in Table 1. Forty-three patients (29.5%) underwent
radiographic evaluation with either UGI series or contrast
enemas. UGI series was performed in 21 (45.6%) patients
for nonbilious emesis, feeding intolerance, or evaluation
of tracheoesophageal fistulas. Contrast enemas were performed in 22 patients (47.8%) to evaluate stool burden
and persistent constipation. Five patients underwent UGI
series and later underwent contrast enemas. One patient underwent a contrast enema followed by an UGI series which

Patient characteristics

Sex
Men (72)
Perineal fistula
Rectourethral fistula
Anterior displaced anus
Web
Unknown defect
Cloacal exstrophy
Female (74)
Perineal fistula
Rectovestibular fistula
Rectovaginal fistula
Anterior displaced anus
Unknown defect
Cloaca
Cloacal exstrophy

Number (%)

Radiographic evaluation

Positive for malrotation

Ladds procedure

28
24
4
2
13
1

5
9
1

4
9
3

3
6
3

2
1
1

1
1

19
21
5
2

(37.8)
(32.4)
(5.4)
(2.7)
(1.4)

(26.4)
(29.2)
(6.9)
(2.8)
7
13 (17.6)
4 (5.4)

P.M. Chesley et al.

ARM and intestinal malrotation

was normal, while another was diagnosed with malrotation

on an UGI series after first having a normal contrast enema.
In total, 7 patients were found to have malrotation (4.8%
of total study population): UGI series was diagnosed in 4 of
these patients, while the other 3 were found incidentally in
the operating room. There were no patients who underwent
operative exploration for suspicion of malrotation without
radiographic evaluation. Six of these patients underwent
operative management with Ladds procedure; however, 3
did not have appendectomies performed. The other infant
suffered from cloacal exstrophy and a formal Ladds procedure was not performed. At the time of review, no patient
who had undergone a Ladds procedure had experienced any
long-term surgical complications from the procedure.
The proportion of patients with UGI series or contrast
enemas was higher in patients with cloaca and cloacal
exstrophy (50%; 95% confidence interval 29% to 71%)
than in imperforate anus (29%; 95% confidence interval 22%
to 37%), while the proportion found to have malrotation was
not significantly different (22% vs 14%; Table 2). Patients
with imperforate anus as well as one or more VACTERL
anomaly were more likely to be evaluated with contrast
enemas or UGI series. Sixty-nine patients with imperforate
anus had one or more VACTERL anomaly and 27 of these patients underwent evaluation (40.3%, P 5 .03; Table 3). Five
of the patients with malrotation had 2 or more VACTERL associations in addition to an anorectal malformation (71.4%;
Fig. 1). No individual imperforate anus subtype was predictive of having malrotation (Table 4).
Long-term functional outcomes within the patient population revealed that 29 patients (19.9%) suffered from fecal
incontinence, ranging from moderate soiling to accidental
bowel movements. Additionally, 35 patients suffered from
constipation (24%). Within our study population, 6 patients
required cecostomy placement (4.1%) and an additional 2
patients required appendicostomies (1.4%). Both patients
who did require an appendicostomy had radiographic
evaluation of their intestinal tract, one with contrast enema
and the other with an UGI series and one additional patient

Table 2

3
with a ceccostomy underwent an UGI series. No patient
with a cecostomy or an appendicostomy has been diagnosed
with malrotation. Of the patients with malrotation, only 1
patient suffered from incontinence while 4 patients had
colostomies and 2 patients continued to be in diapers.

Comments
Anorectal malformations are associated with other anomalous findings that are well known; however, the incidence of
intestinal malrotation within this population is less understood. Although several studies have acknowledged the
combined incidence of ARM and malrotation of approximately 5%,46 the criteria for diagnosing malrotation were not
established. In this study, approximately 5% of the total study
population did have intestinal malrotation with anorectal malformations. However, only 31% had radiographic or intraoperative records, which would evaluate for malrotation.
Radiographic evaluation in this study was defined as a contrast
enema or an UGI series. Contrast enemas have utility in the
evaluation of malrotation and 80% to 87% of patients with
malrotation will have an abnormally located cecum; however,
the cecum may be located in the right lower quadrant in as
many as 20% of patients with malrotation.79 Also, this study
is frequently performed to evaluate the colon for constipation
and incontinence and not primarily done to exclude malrotation. Presently, the accepted gold standard for evaluation of
malrotation is the UGI study, which is abnormal in 94% to
97% of children with malrotation.10 Within our population,
only 14.4% (21/146) of the patients were evaluated with
UGI series. When looking only at the population that was
evaluated with the UGI series, the incidence of malrotation
with anorectal malformations rises to 19% (4/21).
Patients with cloaca and cloacal exstrophy were more
likely to undergo radiographic evaluation than those patients
with imperforate anus; however, the proportion found to have
malrotation was not significantly different between the two
groups. Different subtypes of imperforate anus did not predict

Proportion evaluated for malrotation in patients with imperforate anus or cloaca

Evaluated/total

Evaluated for malrotation

Imperforate anus
All patients
Male only
Female only
Cloaca/cloacal exstrophy
Positive for malrotation
Imperforate anus
All patients
Male only
Female only
Cloaca/cloacal exstrophy
CI 5 confidence interval.

Proportion

95% CI

P value
.07

37/128
19/71
18/57
9/18

.29
.27
.32
.50

.22.37
.18.38
.21.44
.29.71
.54

5/37
2/19
3/18
2/9

.14
.11
.17
.22

.06.29
.03.33
.06.39
.06.55

The American Journal of Surgery, Vol -, No -, - 2015

4
Table 3

Association of VACTERL anomalies and radiographic evaluation

Imperforate anus with one or

more VACTERL anomaly
Cloaca/cloacal exstrophy with one or
more VACTERL anomaly

Number of patients

Number with radiographic evaluation

Percent evaluated

P value

69

27

39.1

.03

13

46.2

.63

VACTERL 5 vertebral, anorectal, cardiac, tracheo-esophageal fistula, renal, radial, limb.

intestinal malrotation. Interestingly, 71% of patients with

malrotation did have 2 or more VACTERL anomalies in
addition to their anorectal malformation and patients with
imperforate anus and one or more VACTERL anomaly were
more likely to undergo contrast enemas or UGI series. Given
the association of the VACTERL anomalies with intestinal
malrotation, patients with 2 or more VACTERL associations
should undergo UGI series to screen for intestinal malrotation.
However, one also must question if the VACTERL association
plays the more predominate role with intestinal malrotation
given the above findings. Currently, there is a paucity of data
relating to this and more studies are needed to better define this
relationship.
Children with malrotation frequently present in the first
year of life, with approximately 70% presenting in the first
month of life.11 The majority of these children will present
with symptoms concerning for intestinal obstruction, which
is typically bilious emesis. Interestingly, only 3 patients in
this study were diagnosed during the first year of life; however, all 7 were diagnosed before 5 years of age. Symptoms
which led to radiologic evaluation in patients with malrotation
were nonbilious emesis and feeding intolerance (n 5 2) and
abdominal distension (n 5 2). Three additional patients
were noted to have malrotation on operative findings, one
in their initial surgery for cloacal exstrophy, another for
increasing abdominal distension on day of life 1, and
the last was taken to the operating room because of obstructive
symptoms. Symptoms leading to the diagnosis of malrotation
could be explained by these patients underlying
condition and it is difficult to determine if these patients
were symptomatic solely from malrotation. Therefore, given

Number of Paents

3.5
3
2.5
2
1.5
1
0.5
0
0

Number of VACTERL Anomalies

Figure 1 Number of VACTERL anomalies in patients with

malrotation.

this complicated clinical picture, patients with anorectal malformations may benefit from additional screening with an
UGI series as they may be at increased risk for intestinal
malrotation.
Surgical management of a child with malrotation involves
the Ladds procedure, which includes performing an appendectomy to remove the potential for delay in diagnosis in a
malrotated child because of the abnormal anatomy with the
appendix in the left abdomen. Although left-sided appendicitis is fairly rare, it is a documented occurrence in case
reports in pediatric and adult literature.12,13 In a child with an
anorectal malformation, performing an appendectomy as
part of a Ladds procedure must be weighed against the
childs risk for poor bowel function in the future. However,
one must first determine which patients with anorectal
malformations are at greatest risk for poor long-term bowel
control. In one study of over 1000 children with anorectal
malformations, the ability to attain continence was dependent on the type of anorectal malformation.14 In this study,
80% to 90% of men with low fistulas were continent by
3 years of age, while only 30% of men with rectobladder
neck fistulas experienced continence. Women in this study
with a rectovestibular fistula experienced continence rates
of 90%, yet only 55% of long channel cloacas were continent, demonstrating that more proximal fistulas were associated with poorer functional outcomes. Others have indicated
that patients with anorectal malformations and spinal cord
anomalies, sacral malformations, and high fistulas are also
negative predictors of continence at 5 years of age.15 A retrospective review in another institution found that 100% of
patients needing an appendicostomy also suffered from a spinal cord malformation, neurogenic bladder, or were born
with a neurologic syndrome.16 In this study, the location of
the fistula did not predict the need for appendicostomy.
Patients with anorectal malformations who do experience poor functional outcomes may benefit from antegrade
continence enemas through an appendicostomy.17 This procedure has been shown to improve outcomes, with greater
than 90% of patients reporting improvements with their
symptoms following the procedure.16,18 In one of these
studies, 16% of their patients with anorectal malformations
underwent an appendicostomy for bowel management.16
When performed, an appendicostomy is typically not
created until later in childhood, typically at a mean of
9 years old.18,19 This study is a 10-year review of anorectal
malformations at a single institution and many of these

P.M. Chesley et al.

Table 4

ARM and intestinal malrotation

Number of patients evaluated and positive for malrotation by ARM type

Evaluated for malrotation

Imperforate anus
Perineal fistula
Rectovestibular fistula
Rectovaginal fistula
Rectourethral fistula
Anterior ectopic anus
Web
No type reported

P value

Positive for malrotation

.24
9/47
9/21
2/5
9/24
1/9
0/2
7/20

P value
.10

0/9
0/9
1/2
2/9
0/1
0/0
2/6

ARM 5 anorectal malformation.

patients are now reaching the age where an appendicostomy

might be appropriate after failure of more conservative
bowel management strategies. Therefore, it is not surprising
that our appendicostomy and cecostomy rates are much
lower than other studies. However, given the success of antegrade enemas using an appendicostomy, patients with an
ARM and intestinal malrotation who are at risk for poor
long-term bowel control should have their appendix preserved during a Ladds procedure.
There are several limitations to this study. First, it is a
retrospective review that depends on the accuracy of coding
and completeness of medical records. Second, management
followed the clinical decision making of attending surgeons
at the time of treatment and there was no defined protocol to
identify which patients should undergo evaluation for intestinal malrotation. Third, several of our patients have been
treated at other institutions and therefore their medical
records depend on the accuracy of parents and the records
from the other institutions for completeness and accuracy.
Fourth, the population being studied is quite small, only 7
patients, and does not carry the power needed to identify
substantial differences within a patient population as complex as those with ARMs. Finally, this is a 10-year review and
we are limited by the length of follow-up, with many
childrens long-term bowel control status evolving. Therefore, conclusions are in some cases difficult as children may
just now begin to learn bowel control.

Conclusions
The incidence of malrotation in the setting of ARM in our
population (5%) is consistent with other reported series;
however, this rate increases to approximately 20% when
identifying those evaluated with UGI series. Seventy-one
percent of our patients with malrotation had 2 or more
VACTERL anomalies in addition to their anorectal malformation and we recommend screening patients meeting these
criteria with an UGI series. Patients with intestinal malrotation, ARM, and poor potential for bowel control should
have their appendix preserved during a Ladds procedure.
Ultimately, a multi-institutional study to evaluate a larger
population with ARMs and intestinal malrotation is needed

to better understand the relationship and management of

malrotation in patients with ARMs.

References
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association: evidence for its etiologic heterogeneity. Pediatrics 1983;71:81520.
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The American Journal of Surgery, Vol -, No -, - 2015

Discussion
Rob Weinsheimer, M.D.: This is a retrospective review
investigating the possible association between intestinal
malrotation and anorectal malformations (ARM). The
team completed a retrospective review of 146 patients
with ARM, presented descriptive statistics, and found seven
patients had malrotation (4.8% of the total). Roughly 30%
(43 patients) of the total group had imaging in the form of
either an upper GI or enema. Of these patients, 4 were diagnosed with malrotation by UGI. Of the remaining 103 patients, 3 were found to have malrotation at the time of
operative exploration. No patients were diagnosed with
malrotation by enema. Type of ARM did not predict malrotation. Imaging was more likely conducted in patients with
1 or more additional VACTERL anomaly or in cloaca patients. Two or more additional VACTERL anomalies predicted a higher chance of intestinal malrotation.

3.

4.

5.

6.

The study conclusions

1. The incidence of malrotation in the ARM population is

approximately 5%. However, this may be much higher
(20%) if looking at the population assessed by upper
GI series.
2. Upper GI series is recommended as a screening test for
malrotation in ARM patients with two or more
VACTERL anomalies.
3. If Ladds procedure is performed, the team recommends preserving the appendix for possible future
appendicostomy.

7.

8.

Questions
9.
1. Were there additional patients that were ruled out for
malrotation by operative exploration?
2. How does the fact that patients with more anomalies
were more likely to have been imaged by either UGI
or enema affect your data? Do you suspect that if
UGI had been more commonly performed in isolated

ARM cases, your conclusion would be different

regarding, which subset of patients with ARM should
be screened?
Ladds procedure patients (6): did any of these patients
have complications such as adhesive bowel
obstruction?
How did you define malrotation on imaging or operative exploration? Would a subtle abnormality of the
level of ligament of Treitz qualify as malrotation?
Since all patients that were operative candidates underwent Ladds procedure, I assume there was a significant abnormality detected.
Is it really the case that none of the patients had both
an upper GI AND enema as the paper seems to indicate? In the setting of malrotation diagnosed on UGI,
did any of these patients end up with an enema as
well?
Since the enema did not detect any cases of malrotation and you indicated that enema is not the optimal
study, would it make more sense to stress the UGI
numbers, which resulted in a 19% malrotation rate
rather than the 4.8% number when combining UGI/
enema/operative exploration? As you pointed out, the
enemas for this group were likely to evaluate distal
colonic issues (stool retention) and so may not have
included the proximal colon.
Since many patients came from other institutions, did
your study include any outside imaging studies?
Would it be possible to attain such studies if available?
Since this study concludes that more VACTERL
anomalies equates higher chances of malrotation,
would it make more sense to conduct this same review
on VACTERL patients and not just VACTERL patients
with ARM or do you suspect that ARM patients are the
subset of VACTERL patients that have malrotation? Is
there any literature to support this?
Please clarify the conclusion that ARM patients with 2
or more VACTERL anomalies should undergo upper
GI. Does this mean patients with an ARM plus ONE
other anomaly or does it mean ARM plus two ADDITIONAL anomalies (3 total including the ARM)? My
sense is that it is the latter, but would be helpful to
word that more clearly.