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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

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
Sarani B, Paspulati RM, Hambley J, Efron D, Martinez J, Perez A, Bowles-Cintron R, Yi F, Hill S, Meyer D, Maykel J, Attalla S, Kochman M, Steele S
Curr Probl Surg 2018 Oct;55(10):394-438. Epub 2018 Sep 22 doi: 10.1067/j.cpsurg.2018.09.001. PMID: 30526888
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

Żyluk A
Pol Przegl Chir 2019 Aug 12;91(6):41-46. doi: 10.5604/01.3001.0013.3400. PMID: 31849359
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 KN, Fankhauser GT, Chapital AB, Merritt MV, Johnson DJ
Am Surg 2014 Jun;80(6):600-3. PMID: 24887799
Bond GJ, Reyes JD
Semin Pediatr Surg 2004 Nov;13(4):286-92. doi: 10.1053/j.sempedsurg.2004.10.016. PMID: 15660322

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

Vasilakakis M, Koulaouzidis A, Yung DE, Plevris JN, Toth E, Iakovidis DK
Expert Rev Gastroenterol Hepatol 2019 Feb;13(2):129-141. Epub 2018 Dec 6 doi: 10.1080/17474124.2019.1553616. PMID: 30791780
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
Gutierrez IM, Kang KH, Jaksic T
Semin Fetal Neonatal Med 2011 Jun;16(3):157-63. Epub 2011 Mar 12 doi: 10.1016/j.siny.2011.02.001. PMID: 21398196
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
Salerno G, De Franco A, La Rosa S, Calistro V
Rays 2002 Jan-Mar;27(1):19-34. PMID: 12696272

Clinical prediction guides

Koh M, Jang JS
Korean J Gastroenterol 2022 Mar 25;79(3):126-129. doi: 10.4166/kjg.2022.018. PMID: 35342170
Vasilakakis M, Koulaouzidis A, Yung DE, Plevris JN, Toth E, Iakovidis DK
Expert Rev Gastroenterol Hepatol 2019 Feb;13(2):129-141. Epub 2018 Dec 6 doi: 10.1080/17474124.2019.1553616. PMID: 30791780
Osborne NG, Bonilla-Musoles F, Machado LE, Raga F, Bonilla F Jr, Ruiz F, Pérez Guardia CM, Ahluwalia B
J Ultrasound Med 2011 Jun;30(6):833-41. doi: 10.7863/jum.2011.30.6.833. PMID: 21632999
Salerno G, De Franco A, La Rosa S, Calistro V
Rays 2002 Jan-Mar;27(1):19-34. PMID: 12696272
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754

Recent systematic reviews

Pacilli M, Nataraja RM
J Infect Public Health 2019 Sep-Oct;12(5):605-607. Epub 2019 May 16 doi: 10.1016/j.jiph.2019.05.003. PMID: 31104988
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
Chung PH, Wong CW, Ip DK, Tam PK, Wong KK
J Pediatr Surg 2017 Mar;52(3):498-503. Epub 2016 Aug 30 doi: 10.1016/j.jpedsurg.2016.08.010. PMID: 27622585
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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