Imperforate Anus: Difference between revisions
No edit summary |
No edit summary |
||
| Line 5: | Line 5: | ||
== Introduction == | == Introduction == | ||
Imperforate anus a congenital malformation within the anus, in which the [[Anal Canal|anal]] opening doesn't exist. This anorectal malformation (ARM) include spectrum of defects within the anus and rectum during development of the fetus. And varies in its severity from minor ones, that looks like a thin membrane covering the anal opening, to more complex conditions that also involve abnormalities in the urinary and genital tracts (cloacal malformations). This defect may be associated with malformation of [[Pelvic Floor Anatomy|pelvic floor muscles]]<ref>Watanabe Y, Ando H, Seo T, Kaneko K, Katsuno S, Shinohara T, Mori K, Toriwaki J. Three-dimensional image reconstruction of an anorectal malformation with multidetector-row helical computed tomography technology. Pediatric surgery international. 2003 May;19:167-71.</ref>. Infants with ARM may also have anomalies with other organ systems<ref>Cho S, Moore SP, Fangman T. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Archives of pediatrics & adolescent medicine. 2001 May 1;155(5):587-91.</ref>. | Imperforate anus a congenital malformation within the anus, in which the [[Anal Canal|anal]] opening doesn't exist. This anorectal malformation (ARM) include spectrum of defects within the anus and rectum during development of the fetus. And varies in its severity from minor ones, that looks like a thin membrane covering the anal opening, to more complex conditions that also involve abnormalities in the urinary and genital tracts (cloacal malformations). This defect may be associated with malformation of [[Pelvic Floor Anatomy|pelvic floor muscles]]<ref>Watanabe Y, Ando H, Seo T, Kaneko K, Katsuno S, Shinohara T, Mori K, Toriwaki J. Three-dimensional image reconstruction of an anorectal malformation with multidetector-row helical computed tomography technology. Pediatric surgery international. 2003 May;19:167-71.</ref>. Infants with ARM may also have anomalies with other organ systems, these anomalies found in about half of patients<ref>Cho S, Moore SP, Fangman T. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Archives of pediatrics & adolescent medicine. 2001 May 1;155(5):587-91.</ref> such as:<ref>Solomon BD. Vacterl/vater association. Orphanet journal of rare diseases. 2011 Dec;6:1-2.</ref> | ||
* '''V'''ertebral defects – reduced bone volume or absence of one-half of a vertebral structure. | |||
* '''A'''nal defects – blocked anus/ absence of the opening | |||
* '''C'''ardiac defects – abnormalities in ventricular septa, atrial septa, or tetralogy of Fallot | |||
* '''T'''racheoesophageal - inability to separate the esophagus and windpipe | |||
* '''R'''enal defects — lack of a full renal system or partial renal system (this could be either unilateral or bilateral), other urinary-genital system irregularities | |||
* '''L'''imbs defects – no digits, displaced digits, many digits, or fused digits. | |||
These defects presentations named as '''VACTERL''' Syndrome, and can be diagnosed by presence of 3 or more of these defects. | |||
== Mechanism of Injury / Pathological Process == | == Mechanism of Injury / Pathological Process == | ||
In 1.4% of instances, ARM may be associated with hereditary genetic factors, an increased risk within the family when some members previously affected by the same disease<ref>Falcone Jr RA, Levitt MA, Peña A, Bates M. Increased heritability of certain types of anorectal malformations. Journal of pediatric surgery. 2007 Jan 1;42(1):124-8.</ref>. | |||
== Clinical Presentation == | == Clinical Presentation == | ||
| Line 23: | Line 32: | ||
add links to outcome measures here (see [[Outcome Measures|Outcome Measures Database]]) | add links to outcome measures here (see [[Outcome Measures|Outcome Measures Database]]) | ||
== Management / Interventions | == Management / Interventions == | ||
add text here relating to management approaches to the condition<br> | add text here relating to management approaches to the condition<br> | ||
== Differential Diagnosis | == Differential Diagnosis == | ||
Most infants with anorectal malformation are discovered and treated earl nowadays. However, in past. it was sometimes misdiagnosed specially mild cases so it is important to examine and check for anal opening, its position to external anal, and presence of fistula or not<ref>Amerstorfer EE, Schmiedeke E, Samuk I, Sloots CE, van Rooij IA, Jenetzky E, Midrio P, ARM-Net Consortium. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221870/ Clinical differentiation between a normal anus, anterior anus, congenital anal stenosis, and perineal fistula: definitions and consequences—the ARM-Net Consortium Consensus]. Children. 2022 Jun 3;9(6):831.</ref>. | |||
== Resources | == Resources == | ||
add appropriate resources here | add appropriate resources here | ||
Revision as of 00:51, 30 March 2024
This article or area is currently under construction and may only be partially complete. Please come back soon to see the finished work!
Introduction[edit | edit source]
Imperforate anus a congenital malformation within the anus, in which the anal opening doesn't exist. This anorectal malformation (ARM) include spectrum of defects within the anus and rectum during development of the fetus. And varies in its severity from minor ones, that looks like a thin membrane covering the anal opening, to more complex conditions that also involve abnormalities in the urinary and genital tracts (cloacal malformations). This defect may be associated with malformation of pelvic floor muscles[1]. Infants with ARM may also have anomalies with other organ systems, these anomalies found in about half of patients[2] such as:[3]
- Vertebral defects – reduced bone volume or absence of one-half of a vertebral structure.
- Anal defects – blocked anus/ absence of the opening
- Cardiac defects – abnormalities in ventricular septa, atrial septa, or tetralogy of Fallot
- Tracheoesophageal - inability to separate the esophagus and windpipe
- Renal defects — lack of a full renal system or partial renal system (this could be either unilateral or bilateral), other urinary-genital system irregularities
- Limbs defects – no digits, displaced digits, many digits, or fused digits.
These defects presentations named as VACTERL Syndrome, and can be diagnosed by presence of 3 or more of these defects.
Mechanism of Injury / Pathological Process[edit | edit source]
In 1.4% of instances, ARM may be associated with hereditary genetic factors, an increased risk within the family when some members previously affected by the same disease[4].
Clinical Presentation[edit | edit source]
add text here relating to the clinical presentation of the condition
Diagnostic Procedures[edit | edit source]
add text here relating to diagnostic tests for the condition
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Management / Interventions[edit | edit source]
add text here relating to management approaches to the condition
Differential Diagnosis[edit | edit source]
Most infants with anorectal malformation are discovered and treated earl nowadays. However, in past. it was sometimes misdiagnosed specially mild cases so it is important to examine and check for anal opening, its position to external anal, and presence of fistula or not[5].
Resources[edit | edit source]
add appropriate resources here
References[edit | edit source]
- ↑ Watanabe Y, Ando H, Seo T, Kaneko K, Katsuno S, Shinohara T, Mori K, Toriwaki J. Three-dimensional image reconstruction of an anorectal malformation with multidetector-row helical computed tomography technology. Pediatric surgery international. 2003 May;19:167-71.
- ↑ Cho S, Moore SP, Fangman T. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Archives of pediatrics & adolescent medicine. 2001 May 1;155(5):587-91.
- ↑ Solomon BD. Vacterl/vater association. Orphanet journal of rare diseases. 2011 Dec;6:1-2.
- ↑ Falcone Jr RA, Levitt MA, Peña A, Bates M. Increased heritability of certain types of anorectal malformations. Journal of pediatric surgery. 2007 Jan 1;42(1):124-8.
- ↑ Amerstorfer EE, Schmiedeke E, Samuk I, Sloots CE, van Rooij IA, Jenetzky E, Midrio P, ARM-Net Consortium. Clinical differentiation between a normal anus, anterior anus, congenital anal stenosis, and perineal fistula: definitions and consequences—the ARM-Net Consortium Consensus. Children. 2022 Jun 3;9(6):831.
