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Intestinal atresia

MedGen UID:
7129
Concept ID:
C0021828
Disease or Syndrome
Synonyms: Apple Peel Intestinal Atresia; Apple Peel Syndrome; Apple Peel Syndromes; Apple-Peel Intestinal Atresia; Apple-Peel Intestinal Atresias; Atresia, Apple-Peel Intestinal; Atresia, Congenital Intestinal; Atresia, Intestinal; Atresias, Apple-Peel Intestinal; Atresias, Congenital Intestinal; Congenital Intestinal Atresia; Congenital Intestinal Atresias; Intestinal Atresia; Intestinal Atresia, Apple-Peel; Intestinal Atresia, Congenital; Intestinal Atresias, Apple-Peel; Intestinal Atresias, Congenital
 
HPO: HP:0011100
Monarch Initiative: MONDO:0001045

Definition

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

Conditions with this feature

Feingold syndrome type 2
MedGen UID:
482119
Concept ID:
C3280489
Disease or Syndrome
Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). For a discussion of genetic heterogeneity of Feingold syndrome, see FGLDS1 (164280).
ZTTK syndrome
MedGen UID:
934663
Concept ID:
C4310696
Disease or Syndrome
ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).
Congenital short bowel syndrome
MedGen UID:
1784105
Concept ID:
C5441717
Disease or Syndrome
A rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
DEGCAGS syndrome
MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).
Netherton syndrome
MedGen UID:
1802991
Concept ID:
C5574950
Disease or Syndrome
Netherton syndrome (NETH) is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002).
Gastrointestinal defects and immunodeficiency syndrome 2
MedGen UID:
1811526
Concept ID:
C5676901
Disease or Syndrome
PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.
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

Zmora O, Beloosesky R, Khatib N, Ginsberg Y, Gover A, Bronshtein M
Int J Gynaecol Obstet 2023 Jul;162(1):273-277. Epub 2023 Jan 31 doi: 10.1002/ijgo.14666. PMID: 36637225
Expert Panel on Pediatric Imaging, Alazraki AL, Rigsby CK, Iyer RS, Bardo DME, Brown BP, Chan SS, Chandra T, Dietrich A, Falcone RA Jr, Garber MD, Gill AE, Levin TL, Moore MM, Nguyen JC, Shet NS, Squires JH, Trout AT, Karmazyn B
J Am Coll Radiol 2020 Nov;17(11S):S505-S515. doi: 10.1016/j.jacr.2020.09.002. PMID: 33153561
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

Riddle S, Karpen H
Clin Perinatol 2023 Sep;50(3):715-728. Epub 2023 Jun 23 doi: 10.1016/j.clp.2023.04.008. PMID: 37536774
Sabbatini S, Ganji N, Chusilp S, Balsamo F, Li B, Pierro A
Semin Pediatr Surg 2022 Dec;31(6):151234. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151234. PMID: 36417784
Choi G, Je BK, Kim YJ
Korean J Radiol 2022 Jan;23(1):124-138. doi: 10.3348/kjr.2021.0111. PMID: 34983099Free PMC Article
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL
Brain 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. PMID: 34415310Free PMC Article
Slater BJ, Pimpalwar A
Neoreviews 2020 Jun;21(6):e383-e391. doi: 10.1542/neo.21-6-e383. PMID: 32482700

Diagnosis

Rich BS, Bornstein E, Dolgin SE
Pediatr Rev 2022 May 1;43(5):266-274. doi: 10.1542/pir.2021-005177. PMID: 35490204
Tanaka A, Miyasaka EA
Semin Pediatr Surg 2022 Feb;31(1):151143. Epub 2022 Feb 18 doi: 10.1016/j.sempedsurg.2022.151143. PMID: 35305803
Choi G, Je BK, Kim YJ
Korean J Radiol 2022 Jan;23(1):124-138. doi: 10.3348/kjr.2021.0111. PMID: 34983099Free PMC Article
Juang D, Snyder CL
Surg Clin North Am 2012 Jun;92(3):685-711, ix-x. Epub 2012 Apr 17 doi: 10.1016/j.suc.2012.03.008. PMID: 22595716
Prasad TR, Bajpai M
Indian J Pediatr 2000 Sep;67(9):671-8. doi: 10.1007/BF02762182. PMID: 11028122

Therapy

Mentessidou A, Saxena AK
World J Surg 2017 Aug;41(8):2178-2184. doi: 10.1007/s00268-017-3937-3. PMID: 28258456
Werler MM
Birth Defects Res A Clin Mol Teratol 2006 Jun;76(6):445-52. doi: 10.1002/bdra.20255. PMID: 16933214
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
Dalla Vecchia LK, Grosfeld JL, West KW, Rescorla FJ, Scherer LR, Engum SA
Arch Surg 1998 May;133(5):490-6; discussion 496-7. doi: 10.1001/archsurg.133.5.490. PMID: 9605910
Kim SH
Surg Clin North Am 1976 Apr;56(2):361-71. doi: 10.1016/s0039-6109(16)40882-0. PMID: 1265601

Prognosis

Ludwig K, De Bartolo D, Salerno A, Ingravallo G, Cazzato G, Giacometti C, Dall'Igna P
Pathologica 2022 Feb;114(1):40-54. doi: 10.32074/1591-951X-553. PMID: 35212315Free PMC Article
Slater BJ, Pimpalwar A
Neoreviews 2020 Jun;21(6):e383-e391. doi: 10.1542/neo.21-6-e383. PMID: 32482700
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
Prasad TR, Bajpai M
Indian J Pediatr 2000 Sep;67(9):671-8. doi: 10.1007/BF02762182. PMID: 11028122
Davenport M, Bianchi A
Br J Hosp Med 1990 Sep;44(3):174, 176, 178-80. PMID: 2257399

Clinical prediction guides

Tiwari C, Borkar NB, Singh S, Mane S, Sinha C
Afr J Paediatr Surg 2023 Apr-Jun;20(2):97-101. doi: 10.4103/ajps.ajps_66_21. PMID: 36960502Free PMC Article
Davis JR, Nsengiyumva A, Igiraneza D, Hong P, Umutoni R, Neal D, Petroze RT, Ntaganda E
J Surg Res 2022 May;273:138-146. Epub 2022 Jan 24 doi: 10.1016/j.jss.2021.12.035. PMID: 35085941
Toprak E, Işıkalan MM
J Ultrasound Med 2022 Mar;41(3):735-741. Epub 2021 May 27 doi: 10.1002/jum.15758. PMID: 34042208
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
Prasad TR, Bajpai M
Indian J Pediatr 2000 Sep;67(9):671-8. doi: 10.1007/BF02762182. PMID: 11028122

Recent systematic reviews

Lum Min SA, Imam M, Zrinyi A, Shawyer AC, Keijzer R
Pediatr Surg Int 2023 Jul 25;39(1):239. doi: 10.1007/s00383-023-05515-w. PMID: 37490166
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
Mentessidou A, Saxena AK
World J Surg 2017 Aug;41(8):2178-2184. doi: 10.1007/s00268-017-3937-3. PMID: 28258456
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
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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