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Abnormal large intestine morphology

MedGen UID:
871234
•Concept ID:
C4025715
•
Anatomical Abnormality
Synonym: Abnormality of the large intestine
 
HPO: HP:0002250

Definition

Any abnormality of the large intestine. [from HPO]

Conditions with this feature

Appendicitis, proneness to
MedGen UID:
400099
•Concept ID:
C1862632
•
Finding
See: Condition Record
Appendicitis, proneness to

Professional guidelines

PubMed

Advances in the Management of the Neonate Born with an Anorectal Malformation.
King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
Proctalgia Syndromes: Update in Diagnosis and Management.
Carrington EV, Popa SL, Chiarioni G
Curr Gastroenterol Rep 2020 Jun 9;22(7):35. doi: 10.1007/s11894-020-00768-0. PMID: 32519087
Microscopic colitis: pathophysiology and clinical management.
Miehlke S, Verhaegh B, Tontini GE, Madisch A, Langner C, Münch A
Lancet Gastroenterol Hepatol 2019 Apr;4(4):305-314. doi: 10.1016/S2468-1253(19)30048-2. PMID: 30860066

Recent clinical studies

Etiology

Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Anorectal malformation: the etiological factors.
Wang C, Li L, Cheng W
Pediatr Surg Int 2015 Sep;31(9):795-804. Epub 2015 Apr 22 doi: 10.1007/s00383-015-3685-0. PMID: 25899933
Embryology of anorectal malformations.
Kluth D
Semin Pediatr Surg 2010 Aug;19(3):201-8. doi: 10.1053/j.sempedsurg.2010.03.005. PMID: 20610193
Atresia of the colon.
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929

Diagnosis

Currarino triad.
Baalaan KP, Gurunathan N
Pan Afr Med J 2022;41:143. Epub 2022 Feb 17 doi: 10.11604/pamj.2022.41.143.33419. PMID: 35519164Free PMC Article
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Anorectal malformations.
Herman RS, Teitelbaum DH
Clin Perinatol 2012 Jun;39(2):403-22. doi: 10.1016/j.clp.2012.04.001. PMID: 22682388
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Medical management of anorectal malformations.
Ambartsumyan L
Aliment Pharmacol Ther 2024 Jul;60 Suppl 1:S77-S84. Epub 2024 Jun 25 doi: 10.1111/apt.17897. PMID: 38924569
Is Pouch Specific to Colon and Not Ileum?
Gupta S, Tiwari P, Gupta N, Nunia V, Saxena AK, Simlot A, Kothari SL, Suravajhala P, Medicherla KM, Mathur P
Curr Pediatr Rev 2019;15(4):259-264. doi: 10.2174/1573396315666190829155930. PMID: 31465285Free PMC Article
Chronic constipation.
Camilleri M, Ford AC, Mawe GM, Dinning PG, Rao SS, Chey WD, Simrén M, Lembo A, Young-Fadok TM, Chang L
Nat Rev Dis Primers 2017 Dec 14;3:17095. doi: 10.1038/nrdp.2017.95. PMID: 29239347
The separation procedure.
Kiely EM, Spitz L
Semin Pediatr Surg 2015 Oct;24(5):231-6. Epub 2015 Jun 26 doi: 10.1053/j.sempedsurg.2015.06.007. PMID: 26382263
Mast cell sarcoma: clinical management.
Weiler CR, Butterfield J
Immunol Allergy Clin North Am 2014 May;34(2):423-32. Epub 2014 Mar 13 doi: 10.1016/j.iac.2014.01.004. PMID: 24745684

Prognosis

Forward-Perspectives in Pediatric Pathology: Hirschsprung Disease.
Rogers BB
Pediatr Dev Pathol 2020 Jan-Feb;23(1):3. Epub 2019 Dec 10 doi: 10.1177/1093526619893138. PMID: 31822165
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Clinical prediction guides

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article
Defecography.
Yang XM, Partanen K, Farin P, Soimakallio S
Acta Radiol 1995 Sep;36(5):460-8. PMID: 7640087

Recent systematic reviews

Utility of postoperative anorectal manometry in children with anorectal malformation: a systematic review.
Rajasegaran S, Tan WS, Ezrien DE, Sanmugam A, Singaravel S, Nah SA
Pediatr Surg Int 2022 Aug;38(8):1089-1097. Epub 2022 Jun 21 doi: 10.1007/s00383-022-05152-9. PMID: 35727358
Endoscopic findings and colonic perforation in microscopic colitis: A systematic review.
Marlicz W, Skonieczna-Żydecka K, Yung DE, Loniewski I, Koulaouzidis A
Dig Liver Dis 2017 Oct;49(10):1073-1085. Epub 2017 Aug 9 doi: 10.1016/j.dld.2017.07.015. PMID: 28847471
Local Excision Techniques for Rectal Cancer After Neoadjuvant Chemoradiotherapy: What Are We Doing?
Smith FM, Ahad A, Perez RO, Marks J, Bujko K, Heald RJ
Dis Colon Rectum 2017 Feb;60(2):228-239. doi: 10.1097/DCR.0000000000000749. PMID: 28059920
Laparoscopic versus open repair of recto-bladderneck and recto-prostatic anorectal malformations: a systematic review and meta-analysis.
Shawyer AC, Livingston MH, Cook DJ, Braga LH
Pediatr Surg Int 2015 Jan;31(1):17-30. Epub 2014 Oct 15 doi: 10.1007/s00383-014-3626-3. PMID: 25316437
Therapeutic management of anal eczema: an evidence-based review.
Havlickova B, Weyandt GH
Int J Clin Pract 2014 Nov;68(11):1388-99. Epub 2014 Jun 4 doi: 10.1111/ijcp.12457. PMID: 24898365Free PMC Article

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