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Ileal atresia

MedGen UID:
451021
Concept ID:
C0266176
Congenital Abnormality
Synonym: Atresia of ileum
SNOMED CT: Congenital atresia of ileum (25896009); Ileal atresia (25896009); Atresia of ileum (25896009)
 
HPO: HP:0011102

Definition

An abnormal closure, or atresia of the tubular structure of the ileum. [from HPO]

Conditions with this feature

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
MedGen UID:
815551
Concept ID:
C3809221
Disease or Syndrome
MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Genitourinary and/or brain malformation syndrome
MedGen UID:
1720440
Concept ID:
C5394158
Disease or Syndrome
Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, commonly including brain and/or urogenital malformations. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye abnormalities and skeletal issues (kyphoscoliosis, joint contractures) can also be present in individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a disorder of sex development (DSD) with gonadal abnormalities (dysgenetic gonads or streak gonads). Individuals with a 46,XX chromosome complement may have varying degrees of virilization (clitoral hypertrophy, posterior labial fusion, urogenital sinus).
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
MedGen UID:
1788773
Concept ID:
C5543476
Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019). For a discussion of genetic heterogeneity of MMIHS, see 249210.
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

Zheng XQ, Wu DM, Chen X, Lin JX, Wang XC, Ren KH, Liu HQ, Xu RL, Yan JY
J Matern Fetal Neonatal Med 2024 Dec;37(1):2250045. Epub 2024 Feb 25 doi: 10.1080/14767058.2023.2250045. PMID: 38403928
Tsitsiou Y, Calle-Toro JS, Zouvani A, Andronikou S
Clin Radiol 2021 Mar;76(3):163-171. Epub 2020 Oct 20 doi: 10.1016/j.crad.2020.09.016. PMID: 33097229
Sholadoye TT, Mshelbwala PM, Ameh EA
Afr J Paediatr Surg 2018 Apr-Jun;15(2):84-87. doi: 10.4103/ajps.AJPS_120_16. PMID: 31290469Free PMC Article

Recent clinical studies

Etiology

Mangray H, Ghimenton F, Aldous C
Pediatr Surg Int 2020 Feb;36(2):201-207. Epub 2019 Oct 29 doi: 10.1007/s00383-019-04594-y. PMID: 31664508
Miscia ME, Lauriti G, Lelli Chiesa P, Zani A
Pediatr Surg Int 2019 Jan;35(1):151-157. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4387-1. PMID: 30386906
Hou D, Zhang J
Chin Med J (Engl) 1999 Jul;112(7):583-5. PMID: 11601247
Niramis R, Watanatittan S, Anuntakosol M, Rattanasuwan T, Buranakitjaroen V
J Med Assoc Thai 1999 Nov;82(11):1063-70. PMID: 10659538
Carty H, Brereton RJ
Clin Radiol 1983 Jul;34(4):367-80. doi: 10.1016/s0009-9260(83)80217-7. PMID: 6872440

Diagnosis

Gerrie SK, Navarro OM
Radiographics 2023 Aug;43(8):e230035. doi: 10.1148/rg.230035. PMID: 37471246
Tripathy PK, Jena PK, Pattnaik K
Afr J Paediatr Surg 2022 Jan-Mar;19(1):32-35. doi: 10.4103/ajps.AJPS_158_20. PMID: 34916349Free PMC Article
Tsitsiou Y, Calle-Toro JS, Zouvani A, Andronikou S
Clin Radiol 2021 Mar;76(3):163-171. Epub 2020 Oct 20 doi: 10.1016/j.crad.2020.09.016. PMID: 33097229
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626
Niramis R, Watanatittan S, Anuntakosol M, Rattanasuwan T, Buranakitjaroen V
J Med Assoc Thai 1999 Nov;82(11):1063-70. PMID: 10659538

Therapy

Silva MACPD, Miranda ML, Oliveira-Filho AG, Bustorff-Silva JM
Arq Bras Cir Dig 2023;36:e1722. Epub 2023 Mar 20 doi: 10.1590/0102-672020230002e1722. PMID: 36946847Free PMC Article
Anık A, Akcan AB, Çulcuoğlu İ, Erdem AO, Özkısacık SK, Türkmen MK
Turk J Pediatr 2021;63(5):927-931. doi: 10.24953/turkjped.2021.05.023. PMID: 34738377
Santos LP, Coimbra D, Cunha C, Lopes MF
BMJ Case Rep 2019 Feb 22;12(2) doi: 10.1136/bcr-2018-226675. PMID: 30798270Free PMC Article
Siersma CL, Rottier BL, Hulscher JB, Bouman K, van Stuijvenberg M
BMC Res Notes 2012 Dec 7;5:677. doi: 10.1186/1756-0500-5-677. PMID: 23217263Free PMC Article
Pellerin D, Bertin P, Nihoul-Fekete C, Ricour C
J Pediatr Surg 1975 Feb;10(1):35-41. doi: 10.1016/s0022-3468(75)80006-6. PMID: 163899

Prognosis

Hosokawa T, Tanami Y, Sato Y, Ishimaru T, Kawashima H, Oguma E
Pediatr Int 2022 Jan;64(1):e15208. doi: 10.1111/ped.15208. PMID: 35831265
Miscia ME, Lauriti G, Lelli Chiesa P, Zani A
Pediatr Surg Int 2019 Jan;35(1):151-157. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4387-1. PMID: 30386906
Sholadoye TT, Mshelbwala PM, Ameh EA
Afr J Paediatr Surg 2018 Apr-Jun;15(2):84-87. doi: 10.4103/ajps.AJPS_120_16. PMID: 31290469Free PMC Article
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626
Niramis R, Watanatittan S, Anuntakosol M, Rattanasuwan T, Buranakitjaroen V
J Med Assoc Thai 1999 Nov;82(11):1063-70. PMID: 10659538

Clinical prediction guides

Saha H, Halder A, Chatterjee U, Saha K
J Pediatr Surg 2019 Nov;54(11):2291-2299. Epub 2019 Jun 19 doi: 10.1016/j.jpedsurg.2019.06.003. PMID: 31257016
Rubio EI, Blask AR, Badillo AT, Bulas DI
Pediatr Radiol 2017 Apr;47(4):411-421. Epub 2017 Jan 23 doi: 10.1007/s00247-016-3770-0. PMID: 28116474
John R, D'Antonio F, Khalil A, Bradley S, Giuliani S
Fetal Diagn Ther 2015;38(2):142-6. Epub 2015 Jan 21 doi: 10.1159/000368603. PMID: 25613369
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626
Mwango GN, Salim SI, Wambugu MN, Aywak AA
East Afr Med J 2012 Aug;89(8):250-7. PMID: 26852455

Recent systematic reviews

Tan LN, Cheung KW, Philip I, Ong S, Kilby MD
Fetal Diagn Ther 2019;45(5):285-294. Epub 2018 Dec 14 doi: 10.1159/000494616. PMID: 30554214
Miscia ME, Lauriti G, Lelli Chiesa P, Zani A
Pediatr Surg Int 2019 Jan;35(1):151-157. Epub 2018 Nov 1 doi: 10.1007/s00383-018-4387-1. PMID: 30386906
Virgone C, D'antonio F, Khalil A, Jonh R, Manzoli L, Giuliani S
Ultrasound Obstet Gynecol 2015 May;45(5):523-9. doi: 10.1002/uog.14651. PMID: 25157626

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