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Abnormal small intestine morphology

MedGen UID:
871236
Concept ID:
C4025717
Anatomical Abnormality
Synonym: Abnormality of the small intestine
 
HPO: HP:0002244

Definition

A structural abnormality of the small intestine. [from HPO]

Conditions with this feature

Fraser syndrome 1
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.

Professional guidelines

PubMed

Reidelberger K, Fingeret A
Surg Clin North Am 2021 Dec;101(6):1081-1096. doi: 10.1016/j.suc.2021.06.006. PMID: 34774270
Long B, Robertson J, Koyfman A
J Emerg Med 2019 Feb;56(2):166-176. Epub 2018 Dec 6 doi: 10.1016/j.jemermed.2018.10.024. PMID: 30527563
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article

Recent clinical studies

Etiology

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
Malamut G, Cellier C
Gastroenterol Clin North Am 2019 Mar;48(1):137-144. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.010. PMID: 30711206
Johnson E, Vu L, Matarese LE
Nutr Clin Pract 2018 Aug;33(4):454-466. Epub 2018 Jun 21 doi: 10.1002/ncp.10113. PMID: 29926935
Rostami K, Aldulaimi D, Holmes G, Johnson MW, Robert M, Srivastava A, Fléjou JF, Sanders DS, Volta U, Derakhshan MH, Going JJ, Becheanu G, Catassi C, Danciu M, Materacki L, Ghafarzadegan K, Ishaq S, Rostami-Nejad M, Peña AS, Bassotti G, Marsh MN, Villanacci V
World J Gastroenterol 2015 Mar 7;21(9):2593-604. doi: 10.3748/wjg.v21.i9.2593. PMID: 25759526Free PMC Article
Reynolds I, Healy P, Mcnamara DA
Surgeon 2014 Oct;12(5):263-70. Epub 2014 Mar 14 doi: 10.1016/j.surge.2014.02.003. PMID: 24637026

Diagnosis

Rich BS, Bornstein E, Dolgin SE
Pediatr Rev 2022 May 1;43(5):266-274. doi: 10.1542/pir.2021-005177. PMID: 35490204
Reidelberger K, Fingeret A
Surg Clin North Am 2021 Dec;101(6):1081-1096. doi: 10.1016/j.suc.2021.06.006. PMID: 34774270
Long B, Robertson J, Koyfman A
J Emerg Med 2019 Feb;56(2):166-176. Epub 2018 Dec 6 doi: 10.1016/j.jemermed.2018.10.024. PMID: 30527563
Gosche JR, Vick L, Boulanger SC, Islam S
Surg Clin North Am 2006 Apr;86(2):285-99,viii. doi: 10.1016/j.suc.2005.12.014. PMID: 16580924
Moore TC
Semin Pediatr Surg 1996 May;5(2):116-23. PMID: 9138710

Therapy

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
Malamut G, Cellier C
Gastroenterol Clin North Am 2019 Mar;48(1):137-144. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.010. PMID: 30711206
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article
Lewis B
Gastrointest Endosc Clin N Am 2006 Apr;16(2):221-8, vii. doi: 10.1016/j.giec.2006.01.015. PMID: 16644452
Tilson MD
Surg Clin North Am 1974 Apr;54(2):409-23. doi: 10.1016/s0039-6109(16)40288-4. PMID: 4593912

Prognosis

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
Malamut G, Cellier C
Gastroenterol Clin North Am 2019 Mar;48(1):137-144. Epub 2018 Dec 13 doi: 10.1016/j.gtc.2018.09.010. PMID: 30711206
Morris G, Kennedy A Jr, Cochran W
Curr Gastroenterol Rep 2016 Apr;18(4):16. doi: 10.1007/s11894-016-0490-4. PMID: 26951229
Rostami K, Aldulaimi D, Holmes G, Johnson MW, Robert M, Srivastava A, Fléjou JF, Sanders DS, Volta U, Derakhshan MH, Going JJ, Becheanu G, Catassi C, Danciu M, Materacki L, Ghafarzadegan K, Ishaq S, Rostami-Nejad M, Peña AS, Bassotti G, Marsh MN, Villanacci V
World J Gastroenterol 2015 Mar 7;21(9):2593-604. doi: 10.3748/wjg.v21.i9.2593. PMID: 25759526Free PMC Article
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article

Clinical prediction guides

Stancu SM, Popescu BA, Beuran M
Chirurgia (Bucur) 2016 May-Jun;111(3):270-3. PMID: 27452941
Rostami K, Aldulaimi D, Holmes G, Johnson MW, Robert M, Srivastava A, Fléjou JF, Sanders DS, Volta U, Derakhshan MH, Going JJ, Becheanu G, Catassi C, Danciu M, Materacki L, Ghafarzadegan K, Ishaq S, Rostami-Nejad M, Peña AS, Bassotti G, Marsh MN, Villanacci V
World J Gastroenterol 2015 Mar 7;21(9):2593-604. doi: 10.3748/wjg.v21.i9.2593. PMID: 25759526Free PMC Article
Tomas C, Soyer P, Dohan A, Dray X, Boudiaf M, Hoeffel C
World J Gastroenterol 2014 Aug 21;20(31):10864-75. doi: 10.3748/wjg.v20.i31.10864. PMID: 25152588Free PMC Article
Ma MX, John M, Forbes GM
Expert Rev Gastroenterol Hepatol 2013 Sep;7(7):643-55. doi: 10.1586/17474124.2013.834125. PMID: 24070155
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754

Recent systematic reviews

Shen B
Dis Colon Rectum 2024 Jun 1;67(S1):S52-S69. Epub 2024 Jan 25 doi: 10.1097/DCR.0000000000003269. PMID: 38276962
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
Hansen CC, Søreide K
Medicine (Baltimore) 2018 Aug;97(35):e12154. doi: 10.1097/MD.0000000000012154. PMID: 30170459Free PMC Article
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224
Srisajjakul S, Prapaisilp P, Bangchokdee S
Clin Imaging 2016 Nov-Dec;40(6):1173-1181. Epub 2016 Aug 6 doi: 10.1016/j.clinimag.2016.08.007. PMID: 27572283

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