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Low anorectal malformation

MedGen UID:
473082
•Concept ID:
C0345218
•
Congenital Abnormality
Synonyms: Low Anorectal Malformation; low anorectal malformation
SNOMED CT: Low anorectal malformation (253772005)
 
Monarch Initiative: MONDO:0015733

Definition

Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLow anorectal malformation
Follow this link to review classifications for Low anorectal malformation in Orphanet.

Professional guidelines

PubMed

Anorectal malformations in low and middle-income countries- spectrum, burden and management.
Sharma S, Mazingi D, Imam S, Chowdhury TK, Saldaña LJ, Mashavave NZ, Olivos M, Chowdhury TS, Hoque M, Correa C, Banu T
Semin Pediatr Surg 2023 Dec;32(6):151349. Epub 2023 Nov 8 doi: 10.1016/j.sempedsurg.2023.151349. PMID: 37988823
Diagnostic decision-making tool for imaging term neonatal bowel obstruction.
Tsitsiou Y, Calle-Toro JS, Zouvani A, Andronikou S
Clin Radiol 2021 Mar;76(3):163-171. Epub 2020 Oct 20 doi: 10.1016/j.crad.2020.09.016. PMID: 33097229
ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.
Kyrklund K, Sloots CEJ, de Blaauw I, Bjørnland K, Rolle U, Cavalieri D, Francalanci P, Fusaro F, Lemli A, Schwarzer N, Fascetti-Leon F, Thapar N, Johansen LS, Berrebi D, Hugot JP, Crétolle C, Brooks AS, Hofstra RM, Wester T, Pakarinen MP
Orphanet J Rare Dis 2020 Jun 25;15(1):164. doi: 10.1186/s13023-020-01362-3. PMID: 32586397Free PMC Article

Recent clinical studies

Etiology

Fetal Inguinal Hernia: Case Report and Review of the Literature.
Liberty G, Shweiki F, Nica A, Anteby EY, Cohen SM, Yagel S
Fetal Diagn Ther 2024;51(1):39-48. Epub 2023 Oct 25 doi: 10.1159/000534374. PMID: 37879314
Evaluation and management of "low" anorectal malformation in male children: an observational study.
Shandilya G, Pandey A, Pant N, Singh G, Kumar A, Rawat J
Pediatr Surg Int 2022 Feb;38(2):337-343. Epub 2021 Oct 27 doi: 10.1007/s00383-021-05035-5. PMID: 34705061
Impact of Low Anorectal Malformation on Parenting Stress: A Mixed-Method Study.
Wigander H, Öjmyr-Joelsson M, Frenckner B, Wester T, Nisell M
J Pediatr Nurs 2018 Sep-Oct;42:e45-e51. Epub 2018 May 18 doi: 10.1016/j.pedn.2018.05.003. PMID: 29778302
Anoplasty for low anorectal malformation.
Whyte C, Canty TG, Smith J, Melody K
J Pediatr Surg 2016 Oct;51(10):1602-6. Epub 2016 Mar 24 doi: 10.1016/j.jpedsurg.2016.03.007. PMID: 27068190
Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases.
Lee SC, Chun YS, Jung SE, Park KW, Kim WK
J Pediatr Surg 1997 Jan;32(1):58-61. doi: 10.1016/s0022-3468(97)90094-4. PMID: 9021570

Diagnosis

Fetal Inguinal Hernia: Case Report and Review of the Literature.
Liberty G, Shweiki F, Nica A, Anteby EY, Cohen SM, Yagel S
Fetal Diagn Ther 2024;51(1):39-48. Epub 2023 Oct 25 doi: 10.1159/000534374. PMID: 37879314
Neonatal lingual and gastrointestinal mucormycosis in a case of low anorectal malformation-a rare presentation.
Gupta R, Parelkar SV, Oak S, Sanghvi B, Prakash A
J Pediatr Surg 2011 Apr;46(4):745-748. doi: 10.1016/j.jpedsurg.2010.12.024. PMID: 21496547
Management and outcome of low anorectal malformations.
Pakarinen MP, Rintala RJ
Pediatr Surg Int 2010 Nov;26(11):1057-63. Epub 2010 Sep 16 doi: 10.1007/s00383-010-2697-z. PMID: 20845044
Associated congenital anomalies in patients with anorectal malformations--a need for developing a uniform practical approach.
Ratan SK, Rattan KN, Pandey RM, Mittal A, Magu S, Sodhi PK
J Pediatr Surg 2004 Nov;39(11):1706-11. doi: 10.1016/j.jpedsurg.2004.07.019. PMID: 15547838
Currarino triad: anorectal malformation, sacral bony abnormality, and presacral mass--a review of 11 cases.
Lee SC, Chun YS, Jung SE, Park KW, Kim WK
J Pediatr Surg 1997 Jan;32(1):58-61. doi: 10.1016/s0022-3468(97)90094-4. PMID: 9021570

Therapy

Neonatal lingual and gastrointestinal mucormycosis in a case of low anorectal malformation-a rare presentation.
Gupta R, Parelkar SV, Oak S, Sanghvi B, Prakash A
J Pediatr Surg 2011 Apr;46(4):745-748. doi: 10.1016/j.jpedsurg.2010.12.024. PMID: 21496547
Management and outcome of low anorectal malformations.
Pakarinen MP, Rintala RJ
Pediatr Surg Int 2010 Nov;26(11):1057-63. Epub 2010 Sep 16 doi: 10.1007/s00383-010-2697-z. PMID: 20845044
Burns caused by fan heater used for managing post-operative hypothermia in a premature neonate.
Wankhede AG, Dongre AP, Sariya DR
J Forensic Leg Med 2007 Jul;14(5):289-92. Epub 2006 Aug 17 doi: 10.1016/j.jcfm.2006.05.002. PMID: 16914360

Prognosis

Fetal Inguinal Hernia: Case Report and Review of the Literature.
Liberty G, Shweiki F, Nica A, Anteby EY, Cohen SM, Yagel S
Fetal Diagn Ther 2024;51(1):39-48. Epub 2023 Oct 25 doi: 10.1159/000534374. PMID: 37879314
Anoplasty for low anorectal malformation.
Whyte C, Canty TG, Smith J, Melody K
J Pediatr Surg 2016 Oct;51(10):1602-6. Epub 2016 Mar 24 doi: 10.1016/j.jpedsurg.2016.03.007. PMID: 27068190
Neonatal lingual and gastrointestinal mucormycosis in a case of low anorectal malformation-a rare presentation.
Gupta R, Parelkar SV, Oak S, Sanghvi B, Prakash A
J Pediatr Surg 2011 Apr;46(4):745-748. doi: 10.1016/j.jpedsurg.2010.12.024. PMID: 21496547
Associated congenital anomalies in patients with anorectal malformations--a need for developing a uniform practical approach.
Ratan SK, Rattan KN, Pandey RM, Mittal A, Magu S, Sodhi PK
J Pediatr Surg 2004 Nov;39(11):1706-11. doi: 10.1016/j.jpedsurg.2004.07.019. PMID: 15547838
Do children with repaired low anorectal malformations have normal bowel function?
Rintala RJ, Lindahl HG, Rasanen M
J Pediatr Surg 1997 Jun;32(6):823-6. doi: 10.1016/s0022-3468(97)90628-x. PMID: 9200078

Clinical prediction guides

Fetal Inguinal Hernia: Case Report and Review of the Literature.
Liberty G, Shweiki F, Nica A, Anteby EY, Cohen SM, Yagel S
Fetal Diagn Ther 2024;51(1):39-48. Epub 2023 Oct 25 doi: 10.1159/000534374. PMID: 37879314
Evaluation and management of "low" anorectal malformation in male children: an observational study.
Shandilya G, Pandey A, Pant N, Singh G, Kumar A, Rawat J
Pediatr Surg Int 2022 Feb;38(2):337-343. Epub 2021 Oct 27 doi: 10.1007/s00383-021-05035-5. PMID: 34705061
Experience with the management of anorectal malformations in Ibadan, Nigeria.
Ogundoyin OO, Olulana DI, Lawal TA
Pan Afr Med J 2021;38:214. Epub 2021 Feb 24 doi: 10.11604/pamj.2021.38.214.21690. PMID: 34046120Free PMC Article
Associated congenital anomalies in patients with anorectal malformations--a need for developing a uniform practical approach.
Ratan SK, Rattan KN, Pandey RM, Mittal A, Magu S, Sodhi PK
J Pediatr Surg 2004 Nov;39(11):1706-11. doi: 10.1016/j.jpedsurg.2004.07.019. PMID: 15547838
Do children with repaired low anorectal malformations have normal bowel function?
Rintala RJ, Lindahl HG, Rasanen M
J Pediatr Surg 1997 Jun;32(6):823-6. doi: 10.1016/s0022-3468(97)90628-x. PMID: 9200078

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