U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormality of the digestive system

MedGen UID:
78584
•Concept ID:
C0266015
•
Congenital Abnormality
Synonyms: Abnormalities, Digestive System; Abnormality, Digestive System; Digestive System Abnormalities; Digestive System Abnormality
SNOMED CT: Congenital anomaly of digestive system (69518005); Congenital deformity of digestive system (69518005); Congenital malformation of the digestive system (69518005)
 
HPO: HP:0025031

Definition

Congenital structural abnormalities of the DIGESTIVE SYSTEM. [from MeSH]

Term Hierarchy

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

Professional guidelines

PubMed

Neonatal Cholestasis: Updates on Diagnostics, Therapeutics, and Prevention.
Feldman AG, Sokol RJ
Neoreviews 2021 Dec 1;22(12):e819-e836. doi: 10.1542/neo.22-12-e819. PMID: 34850148Free PMC Article
AGA Clinical Practice Update on the Diagnosis and Management of Atrophic Gastritis: Expert Review.
Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Meckel's diverticulum: clinical features, diagnosis and management.
Kuru S, Kismet K
Rev Esp Enferm Dig 2018 Nov;110(11):726-732. doi: 10.17235/reed.2018.5628/2018. PMID: 30032625

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
Pediatric choledochal cysts: diagnosis and current management.
Soares KC, Goldstein SD, Ghaseb MA, Kamel I, Hackam DJ, Pawlik TM
Pediatr Surg Int 2017 Jun;33(6):637-650. Epub 2017 Mar 31 doi: 10.1007/s00383-017-4083-6. PMID: 28364277
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
Oesophageal atresia.
Spitz L
Orphanet J Rare Dis 2007 May 11;2:24. doi: 10.1186/1750-1172-2-24. PMID: 17498283Free PMC Article

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
Intestinal Rotation Abnormalities and Midgut Volvulus.
Langer JC
Surg Clin North Am 2017 Feb;97(1):147-159. doi: 10.1016/j.suc.2016.08.011. PMID: 27894424
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
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
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

Maralixibat: First Approval.
Shirley M
Drugs 2022 Jan;82(1):71-76. doi: 10.1007/s40265-021-01649-0. PMID: 34813049Free PMC Article
Lower Gastrointestinal Functional and Motility Disorders in Children.
Arbizu R, Freiberg B, Rodriguez L
Pediatr Clin North Am 2021 Dec;68(6):1255-1271. doi: 10.1016/j.pcl.2021.07.010. PMID: 34736588
Prenatal detection of esophageal atresia: A systematic review and meta-analysis.
Pardy C, D'Antonio F, Khalil A, Giuliani S
Acta Obstet Gynecol Scand 2019 Jun;98(6):689-699. Epub 2019 Mar 6 doi: 10.1111/aogs.13536. PMID: 30659586
ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula.
Krishnan U, Mousa H, Dall'Oglio L, Homaira N, Rosen R, Faure C, Gottrand F
J Pediatr Gastroenterol Nutr 2016 Nov;63(5):550-570. doi: 10.1097/MPG.0000000000001401. PMID: 27579697
Biliary atresia: A comprehensive review.
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637

Prognosis

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
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
Diagnostic Yield of Newborn Screening for Biliary Atresia Using Direct or Conjugated Bilirubin Measurements.
Harpavat S, Garcia-Prats JA, Anaya C, Brandt ML, Lupo PJ, Finegold MJ, Obuobi A, ElHennawy AA, Jarriel WS, Shneider BL
JAMA 2020 Mar 24;323(12):1141-1150. doi: 10.1001/jama.2020.0837. PMID: 32207797Free 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
The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies.
Bishop JC, McCormick B, Johnson CT, Miller J, Jelin E, Blakemore K, Jelin AC
Fetal Diagn Ther 2020;47(2):98-103. Epub 2019 Jun 5 doi: 10.1159/000500471. PMID: 31167209Free PMC Article
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

Recent systematic reviews

Short-term and Long-term Rates of Postacute Sequelae of SARS-CoV-2 Infection: A Systematic Review.
Groff D, Sun A, Ssentongo AE, Ba DM, Parsons N, Poudel GR, Lekoubou A, Oh JS, Ericson JE, Ssentongo P, Chinchilli VM
JAMA Netw Open 2021 Oct 1;4(10):e2128568. doi: 10.1001/jamanetworkopen.2021.28568. PMID: 34643720Free PMC Article
Prenatal detection of esophageal atresia: A systematic review and meta-analysis.
Pardy C, D'Antonio F, Khalil A, Giuliani S
Acta Obstet Gynecol Scand 2019 Jun;98(6):689-699. Epub 2019 Mar 6 doi: 10.1111/aogs.13536. PMID: 30659586
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
Liver transplantation for biliary atresia: a systematic review.
Kasahara M, Umeshita K, Sakamoto S, Fukuda A, Furukawa H, Uemoto S
Pediatr Surg Int 2017 Dec;33(12):1289-1295. Epub 2017 Oct 5 doi: 10.1007/s00383-017-4173-5. PMID: 28983725
Fluoxetine and congenital malformations: a systematic review and meta-analysis of cohort studies.
Gao SY, Wu QJ, Zhang TN, Shen ZQ, Liu CX, Xu X, Ji C, Zhao YH
Br J Clin Pharmacol 2017 Oct;83(10):2134-2147. Epub 2017 Jun 10 doi: 10.1111/bcp.13321. PMID: 28513059Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...