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Abnormality of digestive system morphology

MedGen UID:
927600
•Concept ID:
C4293691
•
Anatomical Abnormality
HPO: HP:0025033

Definition

A structural anomaly of the digestive system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of digestive system morphology

Professional guidelines

PubMed

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.
Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R
Ann Intern Med 2020 Dec 15;173(12):989-1001. Epub 2020 Sep 8 doi: 10.7326/M20-1443. PMID: 32894695
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
Current concepts on Sjögren's syndrome - classification criteria and biomarkers.
Jonsson R, Brokstad KA, Jonsson MV, Delaleu N, Skarstein K
Eur J Oral Sci 2018 Oct;126 Suppl 1(Suppl Suppl 1):37-48. doi: 10.1111/eos.12536. PMID: 30178554Free PMC Article

Recent clinical studies

Etiology

Congenital Hepatopulmonary Fusion.
Rocha GMD
Eur J Pediatr Surg 2022 Dec;32(6):477-496. Epub 2022 Aug 26 doi: 10.1055/s-0042-1749213. PMID: 36027900
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Fetal megacystis: a lot more than LUTO.
Fontanella F, Maggio L, Verheij JBGM, Duin LK, Adama Van Scheltema PN, Cohen-Overbeek TE, Pajkrt E, Bekker M, Willekes C, Bax CJ, Gracchi V, Oepkes D, Bilardo CM
Ultrasound Obstet Gynecol 2019 Jun;53(6):779-787. doi: 10.1002/uog.19182. PMID: 30043466Free PMC Article
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
Management of Type I and Type II laryngeal clefts: controversies and evidence.
Bowe SN, Hartnick CJ
Curr Opin Otolaryngol Head Neck Surg 2017 Dec;25(6):506-513. doi: 10.1097/MOO.0000000000000414. PMID: 28914624

Diagnosis

Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Diagnosis and Management of Laryngotracheoesophageal Cleft.
Sobol SE
Curr Probl Pediatr Adolesc Health Care 2018 Mar;48(3):82-84. doi: 10.1016/j.cppeds.2018.01.007. PMID: 29571545
Small Bowel Congenital Anomalies: a Review and Update.
Morris G, Kennedy A Jr, Cochran W
Curr Gastroenterol Rep 2016 Apr;18(4):16. doi: 10.1007/s11894-016-0490-4. PMID: 26951229
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free 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

Therapy

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
Ankyloglossia and Other Oral Ties.
Walsh J, McKenna Benoit M
Otolaryngol Clin North Am 2019 Oct;52(5):795-811. Epub 2019 Jul 25 doi: 10.1016/j.otc.2019.06.008. PMID: 31353141
Understanding gastroschisis and its clinical management: where are we?
Haddock C, Skarsgard ED
Expert Rev Gastroenterol Hepatol 2018 Apr;12(4):405-415. Epub 2018 Feb 16 doi: 10.1080/17474124.2018.1438890. PMID: 29419329
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Pancreaticobiliary maljunction.
Kamisawa T, Takuma K, Anjiki H, Egawa N, Kurata M, Honda G, Tsuruta K, Sasaki T
Clin Gastroenterol Hepatol 2009 Nov;7(11 Suppl):S84-8. doi: 10.1016/j.cgh.2009.08.024. PMID: 19896105

Prognosis

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
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Small Bowel Congenital Anomalies: a Review and Update.
Morris G, Kennedy A Jr, Cochran W
Curr Gastroenterol Rep 2016 Apr;18(4):16. doi: 10.1007/s11894-016-0490-4. PMID: 26951229
Pancreas divisum.
DiMagno MJ, Wamsteker EJ
Curr Gastroenterol Rep 2011 Apr;13(2):150-6. doi: 10.1007/s11894-010-0170-8. PMID: 21222060Free PMC Article
Hirschsprung's disease.
Kenny SE, Tam PK, Garcia-Barcelo M
Semin Pediatr Surg 2010 Aug;19(3):194-200. doi: 10.1053/j.sempedsurg.2010.03.004. PMID: 20610192

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
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Pancreas divisum.
DiMagno MJ, Wamsteker EJ
Curr Gastroenterol Rep 2011 Apr;13(2):150-6. doi: 10.1007/s11894-010-0170-8. PMID: 21222060Free PMC Article

Recent systematic reviews

Coronavirus disease (COVID-19) and the liver: a comprehensive systematic review and meta-analysis.
Kumar-M P, Mishra S, Jha DK, Shukla J, Choudhury A, Mohindra R, Mandavdhare HS, Dutta U, Sharma V
Hepatol Int 2020 Sep;14(5):711-722. Epub 2020 Jul 4 doi: 10.1007/s12072-020-10071-9. PMID: 32623633Free PMC Article
Assessment of Crohn's disease-associated small bowel strictures and fibrosis on cross-sectional imaging: a systematic review.
Bettenworth D, Bokemeyer A, Baker M, Mao R, Parker CE, Nguyen T, Ma C, Panés J, Rimola J, Fletcher JG, Jairath V, Feagan BG, Rieder F; Stenosis Therapy and Anti-Fibrotic Research (STAR) Consortium.
Gut 2019 Jun;68(6):1115-1126. Epub 2019 Apr 3 doi: 10.1136/gutjnl-2018-318081. PMID: 30944110Free PMC Article
Systematic review of epidemiology, presentation, and management of Meckel's diverticulum in the 21st century.
Hansen CC, Søreide K
Medicine (Baltimore) 2018 Aug;97(35):e12154. doi: 10.1097/MD.0000000000012154. PMID: 30170459Free PMC Article
Craniofacial and upper airway morphology in adult obstructive sleep apnea patients: A systematic review and meta-analysis of cephalometric studies.
Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222
Achalasia: a systematic review.
Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233

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