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Congenital atresia of colon

MedGen UID:
75605
Concept ID:
C0266190
Congenital Abnormality; Finding
Synonym: Colonic atresia
SNOMED CT: Colonic atresia (37054000); Congenital atresia of colon (37054000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0010448
Monarch Initiative: MONDO:0010562
OMIM®: 303650
Orphanet: ORPHA1198

Definition

A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital atresia of colon

Conditions with this feature

Linear skin defects with multiple congenital anomalies 1
MedGen UID:
163210
Concept ID:
C0796070
Disease or Syndrome
Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.
Gastrointestinal defects and immunodeficiency syndrome 1
MedGen UID:
1806192
Concept ID:
C5680044
Disease or Syndrome
Gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) is characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of life. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency (Samuels et al., 2013; Avitzur et al., 2014; Lemoine et al., 2014). Genetic Heterogeneity of GIDID See also GIDID2 (619708), caused by mutation in the PI4KA gene (600286) on chromosome 22q11.

Professional guidelines

PubMed

Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250
Vaos G, Misiakos EP
J Gastrointest Surg 2010 May;14(5):916-25. Epub 2009 Dec 22 doi: 10.1007/s11605-009-1124-z. PMID: 20033342
Gariepy CE, Mousa H
Semin Pediatr Surg 2009 Nov;18(4):224-38. doi: 10.1053/j.sempedsurg.2009.07.004. PMID: 19782304

Recent clinical studies

Etiology

Fox VL
Minerva Pediatr 2018 Jun;70(3):303-307. Epub 2018 Feb 23 doi: 10.23736/S0026-4946.18.05207-6. PMID: 29479946
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250
Vaos G, Misiakos EP
J Gastrointest Surg 2010 May;14(5):916-25. Epub 2009 Dec 22 doi: 10.1007/s11605-009-1124-z. PMID: 20033342
Half E, Bercovich D, Rozen P
Orphanet J Rare Dis 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. PMID: 19822006Free PMC Article
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929

Diagnosis

Singh N, Mohanty S, Kalegowda IY, Rout P
Fetal Pediatr Pathol 2022 Oct;41(5):881-888. Epub 2021 Nov 12 doi: 10.1080/15513815.2021.1998265. PMID: 34766541
Kapur RP, Bellizzi AM, Bond S, Chen H, Han JS, LeGallo RD, Midgen C, Poulin AA, Uddin N, Warren M, Velázquez Vega JE, Zuppan CW
Am J Surg Pathol 2021 Aug 1;45(8):1047-1060. doi: 10.1097/PAS.0000000000001670. PMID: 33492848
Butler Tjaden NE, Trainor PA
Transl Res 2013 Jul;162(1):1-15. Epub 2013 Mar 22 doi: 10.1016/j.trsl.2013.03.001. PMID: 23528997Free PMC Article
Half E, Bercovich D, Rozen P
Orphanet J Rare Dis 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. PMID: 19822006Free PMC Article
Sullivan PB
Arch Dis Child 1996 Jan;74(1):5-7. doi: 10.1136/adc.74.1.5. PMID: 8660047Free PMC Article

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
Stamatakos M, Karaiskos I, Pateras I, Alexiou I, Stefanaki C, Kontzoglou K
Int J Surg 2012;10(3):129-33. Epub 2012 Feb 20 doi: 10.1016/j.ijsu.2012.02.011. PMID: 22361308
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929
Di Lorenzo C, Benninga MA
Gastroenterology 2004 Jan;126(1 Suppl 1):S33-40. doi: 10.1053/j.gastro.2003.10.012. PMID: 14978636
Wakhlu AK, Wakhlu A, Pandey A, Agarwal R, Tandon RK, Kureel SN
World J Surg 1996 Jan;20(1):107-14. doi: 10.1007/s002689900019. PMID: 8588400

Prognosis

Ladan A, Mahdian Jouybari R, Zareh Akbari M, Moharrami Yeganeh P
J Med Case Rep 2023 Jun 7;17(1):233. doi: 10.1186/s13256-023-03969-z. PMID: 37280703Free PMC Article
Meler E, Sisterna S, Borrell A
Prenat Diagn 2020 Mar;40(4):432-446. Epub 2020 Jan 11 doi: 10.1002/pd.5635. PMID: 31891188
Vaos G, Misiakos EP
J Gastrointest Surg 2010 May;14(5):916-25. Epub 2009 Dec 22 doi: 10.1007/s11605-009-1124-z. PMID: 20033342
Etensel B, Temir G, Karkiner A, Melek M, Edirne Y, Karaca I, Mir E
J Pediatr Surg 2005 Aug;40(8):1258-68. doi: 10.1016/j.jpedsurg.2005.05.008. PMID: 16080929
Wakhlu AK, Wakhlu A, Pandey A, Agarwal R, Tandon RK, Kureel SN
World J Surg 1996 Jan;20(1):107-14. doi: 10.1007/s002689900019. PMID: 8588400

Clinical prediction guides

Handra-Luca A, Ben Romdhane HM, Hong SM
Int J Surg Pathol 2020 Aug;28(5):482-489. Epub 2020 Jan 26 doi: 10.1177/1066896920901334. PMID: 31983263
Kerkhofs C, Stevens SJC, Faust SN, Rae W, Williams AP, Wurm P, Østern R, Fockens P, Würfel C, Laass M, Kokke F, Stegmann APA, Brunner HG
Hum Mutat 2020 Jan;41(1):196-202. Epub 2019 Sep 23 doi: 10.1002/humu.23909. PMID: 31498527Free PMC Article
Woo HY, Oh C, Han JW, Kim HY, Jung SE
J Pediatr Surg 2020 Mar;55(3):387-392. Epub 2019 Feb 23 doi: 10.1016/j.jpedsurg.2019.01.066. PMID: 30850150
Phillips M, Patel A, Meredith P, Will O, Brassett C
Ann R Coll Surg Engl 2015 Sep;97(6):439-44. Epub 2015 Aug 14 doi: 10.1308/003588415X14181254790527. PMID: 26274737Free PMC Article
Gavrilescu S, Hanganu E, Sarbu I, Aprodu SG
Rev Med Chir Soc Med Nat Iasi 2013 Apr-Jun;117(2):334-6. PMID: 24340513

Recent systematic reviews

Drusany Starič K, Distefano REC, Norčič G
Int Urogynecol J 2023 Nov;34(11):2647-2655. Epub 2023 Jul 25 doi: 10.1007/s00192-023-05603-4. PMID: 37490063Free PMC Article
Nakamura H, O'Donnell AM, Puri P
Pediatr Surg Int 2019 Feb;35(2):175-180. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4390-6. PMID: 30386895
Fahy AS, Pierro A
Eur J Pediatr Surg 2019 Feb;29(1):68-74. Epub 2018 Sep 18 doi: 10.1055/s-0038-1668576. PMID: 30227446
Hofmann AD, Duess JW, Puri P
Pediatr Surg Int 2014 Aug;30(8):757-61. Epub 2014 Jun 29 doi: 10.1007/s00383-014-3529-3. PMID: 24974188
Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

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