This document discusses imperforate anus, a birth defect where the anus is improperly developed such that stool cannot pass normally from the rectum. The etiology is unclear but genetic factors are involved. Diagnosis involves physical exam, radiological imaging, and other tests. Treatment involves initial colostomy if needed followed by anoplasty surgery to create an opening. Prognosis is generally good, especially for cases without additional defects.

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Anus and rectum
Imperforate anus
Unit 5: Digestive system

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DEFINITION:
▪An imperforate anus is a birth defect that
happens while your baby is still growing in
the womb. This defect means that your baby
has an improperly developed anus, and
therefore can't pass stool normally from
their rectum out of their body.

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INCIDENCE:

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ETIOLOGY
▪ IT IS UNCLEAR
▪ GENETIC COMPONENTS-MUTATIONS IN SPECIFIC
GENES ENCODING TRANSCRIPTION FACTORS
▪ ASSOCIATED WITH TOWNES-BROKES
SYNDROME,CURRARINO’S SYNDROME AND
PALLISTER-HALL SYNDROME,DOWN’S SYNDROME

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TYPES:

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PATHOPHYSIOLOGY
ANUS AND RECTUM ORIGINATE FROM AN EMBRIOLOGICAL
STRUCTURE –CLOACA
LATERAL GROWTH OF CLOACA FORMS URORECTAL
SEPTUM

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DORSALLY FROM URINARY TRACT
SEPERATES RECTUM
VENTRALLY
BY THE 7TH WEEK
AND URINARY TRACT SEPARATE COMPLETELY
OF GESTATION
ANY DELAY IN DEVELOPMENT OR SEPERATION OR ANY
ABNORMAL GROWTH OF STRUCTURES
IMPERFORATE ANUS

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CLINICAL FEATURES
❖ IN INFANTS
▪ NO PASSAGE OF MECONIUM
▪ ABSENSE OF NORMAL ANAL OPENING
▪ PRESENCE OF MECONIUM IN THE PERINEUM

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CONT….
❑ IN OLDER CHILDREN
▪ DIFFICULT DEFECATION
▪ ABDOMINAL DISTENSION
▪ RIBBON LIKE STOOLS

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DIAGNOSTIC EVALUATION
HISTORY
COLLECTION
PHYSICAL
EXAMINATION
RADIOLOGICAL
EXAMINATION Ex:
sacral radiography,
abdominal
ultrasonography, spinal
ultrasonography, MRI
High pressure
distal
colostography
Laboratory
studies

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Clinical inspection

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INVESTIGATION:

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Medical management
▪Nil per oral to be on IV fluids.
▪Antibiotic prophylaxis.
▪Laxatives
▪Diet
▪Activity

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Surgical management
□ COLOSTOMY IS FIRST DONE [IF
NECESSARY]
□ ANOPLASTY IS THEN DONE BY
LAPAROTOMY OR LAPAROSCOPY

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PROGNOSIS
▪ PERINEAL FISTULA AND RECTAL ATRESIA SHOULD HAVE
EXCELLENT FUNCTIONAL RESULTS AFTER THE REPAIR
OF THEIR DEFECTS
▪ MALE PATIENTS WITH RECTOURETHRAL BULBAR
FISTULA AND BOTH SEXES WITH IMPERFORATE ANUS
WITHOUT FISTULA ALSO HAVE GOOD PROGNOSIS-80%

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THANK YOU