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Rectal atresia

MedGen UID:
473199
Concept ID:
C0549173
Congenital Abnormality
Synonyms: Atresia of the rectum; Congenital atresia of rectum; Imperforate rectum
SNOMED CT: Congenital atresia of rectum (91375006); Imperforate rectum (91375006); Rectal atresia (91375006)
 
HPO: HP:0025023

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRectal atresia

Conditions with this feature

Cat eye syndrome
MedGen UID:
120543
Concept ID:
C0265493
Disease or Syndrome
Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).
Fanconi anemia complementation group O
MedGen UID:
462003
Concept ID:
C3150653
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fraser syndrome 2
MedGen UID:
1624349
Concept ID:
C4540036
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). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.
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

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Recent clinical studies

Etiology

de Beaufort CMC, Gorter RR, Iacobelli BD, Midrio P, Sloots CEJ, Samuk I, van Rooij IALM, Lisi G; ARM-Net Consortium
Pediatr Surg Int 2023 Jul 28;39(1):242. doi: 10.1007/s00383-023-05518-7. PMID: 37507508Free PMC Article
Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H
PLoS One 2018;13(4):e0194986. Epub 2018 Apr 5 doi: 10.1371/journal.pone.0194986. PMID: 29621304Free PMC Article
Lopez MP, Encila VI, Alamo SG, Monroy HJ III, Roxas MF
Tech Coloproctol 2017 Feb;21(2):111-118. Epub 2017 Jan 9 doi: 10.1007/s10151-016-1577-5. PMID: 28070723
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Diagnosis

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
Sharma S, Gupta DK
Pediatr Surg Int 2017 Aug;33(8):829-836. Epub 2017 Jun 10 doi: 10.1007/s00383-017-4106-3. PMID: 28601898
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Peña A
Semin Pediatr Surg 1995 Feb;4(1):35-47. PMID: 7728507

Therapy

Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H
PLoS One 2018;13(4):e0194986. Epub 2018 Apr 5 doi: 10.1371/journal.pone.0194986. PMID: 29621304Free PMC Article
Halaska MJ, Pentheroudakis G, Strnad P, Stankusova H, Chod J, Robova H, Petruzelka L, Rob L, Pavlidis N
Breast J 2009 Sep-Oct;15(5):461-7. Epub 2009 Jun 13 doi: 10.1111/j.1524-4741.2009.00760.x. PMID: 19624421
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Prognosis

Lane VA, Wood RJ, Reck C, Skerritt C, Levitt MA
Tech Coloproctol 2016 Apr;20(4):249-54. Epub 2016 Feb 22 doi: 10.1007/s10151-016-1435-5. PMID: 26902368
Skerritt C, Tyraskis A, Rees C, Cockar I, Kiely E
J Pediatr Surg 2016 Mar;51(3):425-9. Epub 2015 Oct 14 doi: 10.1016/j.jpedsurg.2015.09.025. PMID: 26563529
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Clinical prediction guides

Bjørsum-Meyer T, Lund L, Christensen P, Jakobsen MS, Asmussen J, Qvist N
Urology 2020 May;139:207-213. Epub 2020 Feb 4 doi: 10.1016/j.urology.2020.01.026. PMID: 32032684
Junga A, Pilmane M, Ābola Z, Volrāts O
Appl Immunohistochem Mol Morphol 2018 Oct;26(9):664-669. doi: 10.1097/PAI.0000000000000498. PMID: 28248727
Skerritt C, Tyraskis A, Rees C, Cockar I, Kiely E
J Pediatr Surg 2016 Mar;51(3):425-9. Epub 2015 Oct 14 doi: 10.1016/j.jpedsurg.2015.09.025. PMID: 26563529
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Recent systematic reviews

de Beaufort CMC, Derikx JPM, de Jong JR, Burchell GL, Bosscha SRJ, de Beer SA, van Heurn LWE, Gorter RR
Eur J Pediatr Surg 2023 Oct;33(5):345-353. Epub 2022 Dec 14 doi: 10.1055/s-0042-1758152. PMID: 36516962Free PMC Article

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