ANORECTAL MALFORMATIONS
rectum, vagina, and urethra all meet and fuse to form a
Introduction
 Anorectal malformations are any birth defects that involve
the anus and rectum.
 The spectrum of anorectal malformations ranges from
simple anal stenosis to the persistence of a cloaca.
Incidence
 Ranges from 1 in 4000 to 5000 live births, being slightly
more common in males.
 The most common defect in both males and females is an
imperforate anus with a fistula between the distal bowel
and the urethra in males or the vestibule of the vagina in
females.
 Low lesions are much more common than high lesions.
 May occur as part of the VACTREL group of anomalies;
 Vertebral body segmentation defects - Hemivertebra,
Sacral agenesis, spins bifida, scoliosis, kyphosis.
 Anorectal malformations.
 Cardiovascular - PDA, VSD
 Tracheo-Esophageal anomalies TO, esopahageal atresia
 Radial ray hypoplasia; unilateral Renal agenesis or ectopia
 Limb anomalies-amelia, phalyngeal anomalies-reduction or
addition anomalies
Embryology
 From the 4th to 7th weeks, the Primitive cloaca, derived
from the primitive hind gut (endoderm) is divided by the
urorectal septum by its cauadal growth into:
 Ventral cloaca (urogenital sinus) - gives rise to the
urinary bladder, urethra & vestibule of the vagina
 Dorsal cloaca(anorectal canal) - gives rise to the rectum
& anal canal which fuses with the proctodeum-anal pit (an
invagination of the ectoderm which eventually breaks
down by the 8th week) to give rise to the anus
 The rectum develops from the hindgut while the superior
2/3 of the anus develops from the terminal end of the hind
gut. The caudal one third of the anus develops from the
proctodeum which is an ectodermal invagination.
 Failure of the urorectal septum to form results in a
fistula between the bowel and urinary tract (in males) or
the vagina (in females).
 The urorectal septum divides the cloacal membrane
(composed of endoderm of cloaca $ ectoderm of
proctodeum) into the urogenital (anterior) and anal
(posterior) membranes.
 Complete or partial failure of the anal membrane to resorb
results in an anal agenesis or stenosis.
 The perineum also contributes to development of the
external anal opening and genitalia by formation of cloacal
folds that extend from the anterior genital tubercle to the
anal membrane.
 The perineal body is formed by fusion of the cloacal folds
between the anal and urogenital membranes.
 Breakdown of the cloacal membrane anywhere long its
course results in the external anal opening being anterior to
the external sphincter (ie, anteriorly displaced anus).
 Rectal atresia refers to an unusual lesion in which the
lumen of the rectum is either completely or partially
interrupted, with the upper rectum being dilated and the
lower rectum consisting of a small anal canal.
GICHOYA JUDY WAWIRA YR 2007
 A persistent cloaca is defined as a defect in which the
single, common channel.
 Management of anorectal anomalies requires that the level
of the rectal pouch and presence of fistula to the urinary
tract or vagina be determined; this is important in early
management.
 Evaluating the location of a fistula can be performed at a
later time.
Gross Anatomy:
 The RECTUM is about 12cm long terminating about 3-4
cm anteroinferior to tip of coccyx and at this point is the
anorectal angle which is made of a sling of the
puborectalis muscle.
 It is related posteriorly to the Inferior 3 sacral vertebra,
coccyx, anococcygeal ligament, median sacral vessel and
the sympathetic trunk and sacral plexuses.
 Anteriorly it is related to the fundus of urinary bladder, the
terminal part of ureters, the ductus deferens and the
prostate in male while in females it is related to the
rectovaginal septum, vagina $ rectouterine (Douglas’)
pouch.
 The blood supply of the rectum is from the Superior rectal
artery- a branch of the inferior mesenteric, middle
rectal artery- a branch of the internal iliac and the
inferior rectal artery- a branch of the internal pudendal
artery, a branch of the internal iliac too.
 It is drained by the superior rectal vein a tributary to the
portal system (inferior mesenteric) and the inferior rectal
vein which drains to the systemic circulation (internal
pudendal-internal iliac).
 It is innervated by the middle rectal plexus and also the
sympathetic and parasympathetic nerves.
 The ANUS (superior 2/3=25mm $ inf. 1/3=13mm) is
supplied by superior rectal artery and two inferior rectal
arteries and drained by the middle rectal vein and the
inferior rectal vein. Innervated by the inferior
hypogastric plexus of nerves. Lymphatic drainage for
superior $ inf. parts is to Inf. Mesenteric L.N $ Superficial
inguinal L.N respectively.
Classification-high/low and fistula present /absent
 Below
 Low anomalies include a
o anal agenesis (>90% with fistula)
o stenosed anus
o membranous atresia of anus (imperforate
anus)
o ectopic anus (often anteriorly)
Anterior Displacement of the Anus
∗ This anomaly is more common in girls than in boys.
∗ It may be associated with a posterior rectal shelf and
usually is characterized by constipation and straining with
stool.
∗ The diagnosis of anterior displaced anus depends on
finding the anus located close to the base of the scrotum
or vaginal fourchette.
∗ If the center of the anus is located less than 33% of the
total distance from vaginal fourchette (or base of scrotum)
to coccyx, there is a high likelihood of difficulty with
defecation.
Anal Stenosis
∗ In anal stenosis, the anal aperture may be very small and
filled with a dot of meconium.
∗ Defecation is difficult, and there may be ribbon-like stools,
fecal impaction, and abdominal distention.
∗ This malformation accounts for about 10% of cases of
anorectal anomalies.
∗ This anomaly may not be apparent at birth and may be
discovered on rectal examination of the infant with straining
at stool.
Imperforate Anal Membrane
∗ In imperforate anal membrane, the infant fails to pass
meconium, and a greenish bulging membrane is seen in
the anal aperture.
∗ After excision, bowel and sphincter function are normal.
Anal Agenesis
 Associated conditions - oesophageal atresia, duodenal
atresia, and cardiovascular defects
Physical examination
 A piece of gauze is placed around the tip of the penis can
be used to check for particles of meconium filtered through
this gauze.
 The presence of meconium in the urine and a flat bottom
(flat perineum with short sacrum) are considered indications
to create a protective colostomy.
 The presence of a single perineal orifice is
pathognomonic of a cloaca.
 A palpable pelvic mass (hydrocolpos) reinforces the
suspicions of a cloaca.
 The diagnosis of a vestibular fistula can be established by a
careful separation of the labia to see the vestibule.
 Examination to exclude other abnormalities.

∗ In the child with anal agenesis, an anal pit or dimple is

present, and stimulation of the perianal area leads to
puckering indicative of the presence of the external
sphincter.
∗ If there is no associated rectoperineal fistula, intestinal
obstruction occurs.
∗ Fistulas may also be vulvar in the female and urethral in the
male.
Anorectal Agenesis
∗ Anorectal agenesis accounts for 75% of total anorectal
anomalies.
∗ Fistulas are almost invariably present.
∗ In the female, they may be vaginal or may enter a
urogenital sinus, which is a common passageway for the
urethra and vagina.
∗ In the male, fistulas are rectovesical or rectourethral (often
prostatic urethra).
∗ Associated major congenital malformations are common
∗ Sacral defects and absence of internal and external anal
sphincters are common.
Rectal atresia
The rectum $ anal canal are present but are separated
(sometimes connected by a fibrous cord-a remnant of the atretic
portion of rectum).
Due to:
 Abnormal recanalization of colon
 Defective blood supply there
Investigations
1. Baby gram-X-ray showing head to toe. Air in the abdomen
may indicate small intestinal atresia
2. No Fistula - Invertogram - X-ray with head down hips flexed
at 90 degrees and legs flexed at 90 degrees
 Baby held for several minutes to allow air to pass into the
rectal pouch
 (Alternative - Prone cross-table lateral view)
 Best done after 16-24 hr of life - At birth the bowel is not
distended; therefore, clinical and radiologic evaluations are
not reliable during the first 16–24 hr of life.
 To find out the level of the rectal atresia by viewing how far
the gas has reached in relation to area where sphincter
should be (Put a coin)
 High lesions are above the levator.
 Intermediate lesions are characterized by the rectal pouch
ending within the levator,
 low lesions, the rectal pouch has completely traversed the
levator musculature, and a fistula usually is evident on the
skin within the midline (ie, anteriorly displaced anus)
3. Fistula - Colostogram - Should be done under pressure to
illustrate any fistula
4 .Abdominal U/S
 During the first 24 hrs of life, all these patients need an
abdominal ultrasound evaluation to identify an obstructive
uropathy especially in patients with;

Clinical presentation  Cloaca (Cervix faces posteriorly not downwards thus may
obstruct the ureters)
 Absence of anal opening
o Anorectal (or anal) agenesis without fistula  Rectovesical (Bladder neck) fistula
o Anal stenosis/agenesis  Rectoprostatic urethral fistula

 Single perineal opening with Rectovaginal & Urethral 5..Perineal U/S or MRI If required, the level of the rectal pouch
openings immediately behind the clitoris – Cloaca can be delineated more definitively by ultrasonography or
 Failure to pass stool/meconium magnetic resonance imaging.
 Passing meconium/stool/air;  Perineal ultrasonography may be useful in determining the
o Per urethra (mixed with urine). distance between the rectal pouch and the anal skin,
o Per vagina.  In general, a lesion can be considered to be low if the
o Ectopic point in perineum. distance from the rectal pouch to the skin, as determined by
ultrasonography, is less than 1 cm.
 Abdominal distension and Vomiting

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Evaluation for other anomalies:
1-Chest x-ray
2-Lumbosacral x-ray
3-Abdominal pelvic ultrasonography
4-Kidney Ureter Bladder KUB x-ray
5-IVU
6-Echocardiography and ECG
7-Passage of nasogastric tube
 Congenital anorectal anomalies often co-exist with other
lesions, and the VATER or VACTERL association must be
considered.
 Bony abnormalities of the sacrum and spine occur in about
one third of patients with anorectal anomalies and consist
of absent, accessory, or hemivertebrae and/or an
asymmetric or short sacrum.
 The absence of two or more vertebrae is associated with
poor prognosis in terms of bowel and bladder continence.
 Occult dysraphism of the spinal cord also may be present,
and it consists of tethered cord, lipomeningocele, or fat
within the filum.
 Vesicoureteral reflux and hydronephrosis are the most
common abnormalities, but other findings such as
horseshoe, dysplastic, or absent kidney as well as
hypospadias or cryptorchidism also must be considered.
 The higher the anorectal malformation, the more frequent
the associated urologic abnormalities.
 In patients with persistent cloacas or rectovesical fistula,
the likelihood of a genitourinary abnormality is
approximately 90%.
SURGICAL MANAGEMENT(depend on whether its low or
high lesion)
 The newborn infant with a low lesion can have a primary,
single-stage repair procedure on the perineum without
need for a colostomy. Three basic approaches may be
used.
 For anal stenosis with a normal location of the anal
opening, only simple serial dilatation is necessary.
 This should be performed daily (12-Fr size for newborn
infants), and the size of the dilator should be increased
progressively.
 Over several months, the anus ultimately will admit an
index finger easily, and the dilatations can be discontinued.
 If the anal opening is anterior to the external sphincter (ie,
anteriorly displaced anus) with a small distance between
the opening and the center of the external sphincter and
perineal body also is intact, a cutback anoplasty is
performed.
 A covered anus – open tract with a scissor then do routine
dilatation;
 An ectopic anus - a plastic cut back operation (pena
procedure);
 A stenosed anus – regular dilatation and
 A membranous covering – incision of the membrane.
 Infants with intermediate or high lesions require a
colostomy as the first part of a three-stage
reconstruction. In males without fistulae fashioning of a
colostomy is an emergency procedure.
 NB. In females with a fistulae a colostomy may be
fashioned at 3months-times when food starts to solidify and
cant go through the fistulae.
 The colon is completely divided junction of the descending
and sigmoid colon region(this is because of good blood
supply ,length of gut good mobilization)
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 The proximal bowel as brought out as colostomy and the
distal bowel as a mucous fistula.
 The second-stage procedure usually is performed 2-3
months later.
 Posterior saggital anorectoplasty it consists Surgically
dividing the rectourinary or rectovaginal fistula
 "-Pull-through" of the terminal rectal pouch into the normal
anal position.
 The patient is left with the protective colostomy to afford
healing of the new anal anastomosis.
 In males, a urinary catheter remains in place to maintain
the lumen of the urethra after repair of the rectourinary
fistula.
 The third and final stage is performed a few months after
the second stage, and it consists of colostomy closure.
Anal dilatations are begun 2 weeks after the pull-through
procedure and continue for several months after the
colostomy closure. A 12-Fr dilator is used for newborns,
which is increased up to 14- or 16-Fr for older infants.
 All stages of the surgery should be complete before 1 year
of age when toilet training is meant to commence.
 Alternative is an extended posterior saggital
anorectovaginoplasty
 Supportive care includes intravenous fluids, analgesia and
antibiotics nasogastric tube for decompression in cases in
intestinal obstruction.
Newer methods: that can be used include:
(a) biofeedback mechanisms,
(b) muscle transfer (Gracilis, Gluteus maximus),
(c) tightening surgery,
(d) Malone procedure ( Use of appendix/colonic
conduit used to deliver anterograde enemas) and
a permanent colostomy.
∗ Antegrade continence enema procedures may allow for
continence in children without anal sphincter function by
facilitating irrigation of the colon via a cecostomy or
appendicostomy
Summary
PSARP + Abdominal approach
1. Rectovesical (Bladder neck) fistulae in males
2. Rectoprostatic urethral fistula
3.≥3cm high (bowel-skin distance) Cloaca
PSARP only;
1. Rectobulbar urethral fistula
2. Anal Agenesis <1cm bowel-skin distance(No colostomy)
3. Perineal fistula (No colostomy)
4. <3cm Cloaca (Rectovaginal & Rectovestibular fistula)
Post-operative management
i)-4th day - Sitz baths to remove any bacteria
ii)-10th day - When the wound has healed, start daily Hegars
dilatation - Always start the previous days dilator then increase
to the next size - to prevent stenosis. Aim for a size in keeping
with the child's age (or mother's index finger).
Once the size has been achieved, the mother is taught how to
digitally dilate at home for some time.
iii)-Confirm adequacy of anus before closure of colostomy
iv)-If there is faecal soiling, reassess the sphincter by
performing anal mapping under GA
-If rectum misplaced, then put a colostomy & redo PSARP
-If rectum is appropriately placed, then manage the patient
medically - constipating diet & high daily enema
Prognostic factors
1. High lesions have poorer prognosis compared to low lesions
(think of surrounding structures)
High lesions -Females-Cloacal complex, rectovaginal fistula,
rectocutaneous fistula
Males-Rectovesical fistula, rectoprostatic fistula
(commonest lesion)
2. Timing of the surgery-earlier surgeries have better results.
3. Bony abnormalities are associated with poorer prognosis,
4. Number of operations-first attempt operation would achieve
best results
5. Timing of colostomy-done early to avoid megacolon and
regain peristalsis

∗ Of the patients with low imperforate anus, 80-90% are

continent after surgery; of those with high imperforate anus,
only 30% achieve continence.
∗ Success or failure in achieving continence cannot be
judged until after the age of 10 years.

Local Exam - Anus

Normal gluteal cheeks, anal canal is in normal position, with no
anal fissures or tags, no ulcers. Normal external female
genitalia.
Tender anal opening admitting the little finger, normal anal tone,
blood stains on examining finger but no pus.

Describing the colostomy stoma A colostomy bag was

present over a double barreled colostomy about 3 cm left to the
midline and about 2 cm above the umbilicus. The bag had little
fecal material. The skin around the colostomy was slightly hyper
pigmented compared with surrounding skin but had no
ulcerations or marks from scratching.

In a female the fistula could be:

-Recto vaginal fistula
-Recto urethral fistula
-Rectovestibular fistula
-Rectovesicular fistula

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GICHOYA JUDY WAWIRA YR 2007
GICHOYA JUDY WAWIRA YR 2007