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Intussusception

MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
Synonyms: Intestinal Invagination; Intestinal Invaginations; Intussusceptions; Intususception; Intususceptions; Invagination, Intestinal; Invaginations, Intestinal
SNOMED CT: ISN - Intussusception (49723003); Intussusception of the intestine (49723003); Intestinal intussusception (49723003); Intussusception of intestine (49723003); Invagination of intestine (49723003)
 
HPO: HP:0002576
Monarch Initiative: MONDO:0007835
OMIM®: 147710

Definition

An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. [from HPO]

Clinical features

From HPO
Intussusception
MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.

Conditions with this feature

Intussusception
MedGen UID:
43940
Concept ID:
C0021933
Disease or Syndrome
An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Juvenile polyposis syndrome
MedGen UID:
87518
Concept ID:
C0345893
Neoplastic Process
Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.
Blue rubber bleb nevus
MedGen UID:
83401
Concept ID:
C0346072
Congenital Abnormality
A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
MedGen UID:
481620
Concept ID:
C3279990
Disease or Syndrome
IMD31C is a disorder of immunologic dysregulation with highly variable manifestations resulting from autosomal dominant gain-of-function mutations in STAT1 (600555). Most patients present in infancy or early childhood with chronic mucocutaneous candidiasis (CMC). Other highly variable features include recurrent bacterial, viral, fungal, and mycoplasmal infections, disseminated dimorphic fungal infections, enteropathy with villous atrophy, and autoimmune disorders, such as hypothyroidism or diabetes mellitus. A subset of patients show apparently nonimmunologic features, including osteopenia, delayed puberty, and intracranial aneurysms. Laboratory studies show increased activation of gamma-interferon (IFNG; 147570)-mediated inflammation (summary by Uzel et al., 2013 and Sampaio et al., 2013).
Coffin-Siris syndrome 1
MedGen UID:
482831
Concept ID:
C3281201
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
MedGen UID:
1677803
Concept ID:
C5193005
Disease or Syndrome
GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by Manley et al., 2018).

Professional guidelines

PubMed

Yamamoto H, Sakamoto H, Kumagai H, Abe T, Ishiguro S, Uchida K, Kawasaki Y, Saida Y, Sano Y, Takeuchi Y, Tajika M, Nakajima T, Banno K, Funasaka Y, Hori S, Yamaguchi T, Yoshida T, Ishikawa H, Iwama T, Okazaki Y, Saito Y, Matsuura N, Mutoh M, Tomita N, Akiyama T, Yamamoto T, Ishida H, Nakayama Y
Digestion 2023;104(5):335-347. Epub 2023 Apr 13 doi: 10.1159/000529799. PMID: 37054692
Reidelberger K, Fingeret A
Surg Clin North Am 2021 Dec;101(6):1081-1096. doi: 10.1016/j.suc.2021.06.006. PMID: 34774270
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

Recent clinical studies

Etiology

Sun M, Li Z, Shu Z, Wu Q, Liu X
PeerJ 2022;10:e14495. Epub 2022 Nov 30 doi: 10.7717/peerj.14495. PMID: 36518277Free PMC Article
Oor JE, Goense L, Wiezer MJ, Derksen WJM
Surg Obes Relat Dis 2021 May;17(5):1017-1028. Epub 2021 Jan 21 doi: 10.1016/j.soard.2021.01.006. PMID: 33632616
Zhang M, Zhou X, Hu Q, Jin L
J Pediatr Surg 2021 Apr;56(4):721-726. Epub 2020 Jun 23 doi: 10.1016/j.jpedsurg.2020.06.014. PMID: 32682542
Honjo H, Mike M, Kusanagi H, Kano N
World J Surg 2015 Jan;39(1):134-8. doi: 10.1007/s00268-014-2759-9. PMID: 25192846Free PMC Article
Azar T, Berger DL
Ann Surg 1997 Aug;226(2):134-8. doi: 10.1097/00000658-199708000-00003. PMID: 9296505Free PMC Article

Diagnosis

Mwenda JM, Tate JE, Parashar UD
Pan Afr Med J 2021;39(Suppl 1):1. Epub 2021 Jul 27 doi: 10.11604/pamj.supp.2021.39.1.30287. PMID: 34548893Free PMC Article
Edwards EA, Pigg N, Courtier J, Zapala MA, MacKenzie JD, Phelps AS
Pediatr Radiol 2017 Aug;47(9):1101-1108. Epub 2017 Aug 4 doi: 10.1007/s00247-017-3878-x. PMID: 28779197
Padilla BE, Moses W
Surg Clin North Am 2017 Feb;97(1):173-188. doi: 10.1016/j.suc.2016.08.015. PMID: 27894426
Honjo H, Mike M, Kusanagi H, Kano N
World J Surg 2015 Jan;39(1):134-8. doi: 10.1007/s00268-014-2759-9. PMID: 25192846Free PMC Article
DiFiore JW
Semin Pediatr Surg 1999 Nov;8(4):214-20. doi: 10.1016/s1055-8586(99)70029-6. PMID: 10573432

Therapy

Sun ZW, Fu Y, Lu HL, Yang RX, Goyal H, Jiang Y, Xu HG
JAMA Pediatr 2021 Jul 1;175(7):e210347. Epub 2021 Jul 6 doi: 10.1001/jamapediatrics.2021.0347. PMID: 33970192Free PMC Article
Oor JE, Goense L, Wiezer MJ, Derksen WJM
Surg Obes Relat Dis 2021 May;17(5):1017-1028. Epub 2021 Jan 21 doi: 10.1016/j.soard.2021.01.006. PMID: 33632616
Tate JE, Parashar UD
Expert Opin Drug Saf 2019 Jan;18(1):21-27. Epub 2018 Dec 26 doi: 10.1080/14740338.2019.1561857. PMID: 30570424Free PMC Article
Gluckman S, Karpelowsky J, Webster AC, McGee RG
Cochrane Database Syst Rev 2017 Jun 1;6(6):CD006476. doi: 10.1002/14651858.CD006476.pub3. PMID: 28567798Free PMC Article
Vesikari T
Scand J Infect Dis 2008;40(9):691-5. doi: 10.1080/00365540802040570. PMID: 19086243

Prognosis

Oor JE, Goense L, Wiezer MJ, Derksen WJM
Surg Obes Relat Dis 2021 May;17(5):1017-1028. Epub 2021 Jan 21 doi: 10.1016/j.soard.2021.01.006. PMID: 33632616
Reddy SN, Nair NP, Tate JE, Thiyagarajan V, Giri S, Praharaj I, Mohan VR, Babji S, Gupte MD, Arora R, Bidari S, Senthamizh S, Mekala S, Goru KB, Reddy B, Pamu P, Gorthi RP, Badur M, Mohan V, Sathpathy S, Mohanty H, Dash M, Mohakud NK, Ray RK, Mohanty P, Gathwala G, Chawla S, Gupta M, Gupta R, Goyal S, Sharma P, Mathew MA, Jacob TJK, Sundaram B, Purushothaman GKC, Dorairaj P, Jagannatham M, Murugiah K, Boopathy H, Maniam R, Gurusamy R, Kumaravel S, Shenoy A, Jain H, Goswami JK, Wakhlu A, Gupta V, Vinayagamurthy G, Parashar UD, Kang G
N Engl J Med 2020 Nov 12;383(20):1932-1940. doi: 10.1056/NEJMoa2002276. PMID: 33176083Free PMC Article
Cho HK, Hwang SH, Nam HN, Han K, Kim B, Kong I, Park K, Lee J
PLoS One 2020;15(8):e0238185. Epub 2020 Aug 28 doi: 10.1371/journal.pone.0238185. PMID: 32857776Free PMC Article
Kollaritsch H, Kundi M, Giaquinto C, Paulke-Korinek M
Clin Microbiol Infect 2015 Aug;21(8):735-43. Epub 2015 Feb 11 doi: 10.1016/j.cmi.2015.01.027. PMID: 25680314
Shaw AR
Annu Rev Med 2013;64:165-74. Epub 2012 Nov 1 doi: 10.1146/annurev-med-121511-093810. PMID: 23121179

Clinical prediction guides

Kelley-Quon LI, Arthur LG, Williams RF, Goldin AB, St Peter SD, Beres AL, Hu YY, Renaud EJ, Ricca R, Slidell MB, Taylor A, Smith CA, Miniati D, Sola JE, Valusek P, Berman L, Raval MV, Gosain A, Dellinger MB, Sømme S, Downard CD, McAteer JP, Kawaguchi A
J Pediatr Surg 2021 Mar;56(3):587-596. Epub 2020 Oct 6 doi: 10.1016/j.jpedsurg.2020.09.055. PMID: 33158508Free PMC Article
Ajao AE, Lawal TA, Ogundoyin OO, Olulana DI
Afr Health Sci 2020 Sep;20(3):1463-1470. doi: 10.4314/ahs.v20i3.52. PMID: 33402995Free PMC Article
Burnett E, Parashar UD, Tate JE
Pediatr Infect Dis J 2020 Dec;39(12):1127-1130. doi: 10.1097/INF.0000000000002860. PMID: 33060518Free PMC Article
Podzemny V, Pescatori LC, Pescatori M
World J Gastroenterol 2015 Jan 28;21(4):1053-60. doi: 10.3748/wjg.v21.i4.1053. PMID: 25632177Free PMC Article
Sorantin E, Lindbichler F
Eur Radiol 2004 Mar;14 Suppl 4:L146-54. doi: 10.1007/s00330-003-2033-2. PMID: 14752570

Recent systematic reviews

Gidengil C, Goetz MB, Newberry S, Maglione M, Hall O, Larkin J, Motala A, Hempel S
Vaccine 2021 Jun 23;39(28):3696-3716. Epub 2021 May 25 doi: 10.1016/j.vaccine.2021.03.079. PMID: 34049735
Sun ZW, Fu Y, Lu HL, Yang RX, Goyal H, Jiang Y, Xu HG
JAMA Pediatr 2021 Jul 1;175(7):e210347. Epub 2021 Jul 6 doi: 10.1001/jamapediatrics.2021.0347. PMID: 33970192Free PMC Article
Oor JE, Goense L, Wiezer MJ, Derksen WJM
Surg Obes Relat Dis 2021 May;17(5):1017-1028. Epub 2021 Jan 21 doi: 10.1016/j.soard.2021.01.006. PMID: 33632616
Kelley-Quon LI, Arthur LG, Williams RF, Goldin AB, St Peter SD, Beres AL, Hu YY, Renaud EJ, Ricca R, Slidell MB, Taylor A, Smith CA, Miniati D, Sola JE, Valusek P, Berman L, Raval MV, Gosain A, Dellinger MB, Sømme S, Downard CD, McAteer JP, Kawaguchi A
J Pediatr Surg 2021 Mar;56(3):587-596. Epub 2020 Oct 6 doi: 10.1016/j.jpedsurg.2020.09.055. PMID: 33158508Free PMC Article
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

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