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Anorectal anomaly

MedGen UID:
501217
Concept ID:
C3495676
Anatomical Abnormality
Synonyms: Anorectal anomalies; Hereditary anorectal anomalies
SNOMED CT: Anorectal malformation (33225004); Anorectal anomaly (33225004)
 
HPO: HP:0012732
Monarch Initiative: MONDO:0007136
OMIM®: 107100

Definition

An abnormality of the anus or rectum. [from HPO]

Clinical features

From HPO
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Rectovaginal fistula
MedGen UID:
11152
Concept ID:
C0034895
Finding
The presence of a fistula between the vagina and the rectum.

Professional guidelines

PubMed

Pacilli M, Pallot D, Andrews A, Downer A, Dale L, Willetts I
J Pediatr Surg 2014 Feb;49(2):269-72; discussion 272. Epub 2013 Nov 18 doi: 10.1016/j.jpedsurg.2013.11.036. PMID: 24528964
Rashid KA, Wakhlu A, Tandon RK, Husain N
Eur J Pediatr Surg 2008 Oct;18(5):303-6. doi: 10.1055/s-2008-1038607. PMID: 19051395
Diseth TH, Emblem R
J Pediatr Surg 1996 May;31(5):638-43. doi: 10.1016/s0022-3468(96)90664-8. PMID: 8861471

Recent clinical studies

Etiology

Hrabovszky Z, Dewan PA
Pediatr Surg Int 2002 May;18(4):269-72. doi: 10.1007/s003830100665. PMID: 12021977
Paidas CN
Semin Pediatr Surg 1997 Nov;6(4):228-34. PMID: 9368274
Wakhlu A, Pandey A, Prasad A, Kureel SN, Tandon RK, Wakhlu AK
Pediatr Surg Int 1997 Apr;12(4):283-5. doi: 10.1007/BF01372150. PMID: 9099646
Iskandar BJ, Oakes WJ, McLaughlin C, Osumi AK, Tien RD
J Neurosurg 1994 Oct;81(4):513-9. doi: 10.3171/jns.1994.81.4.0513. PMID: 7931583
Rintala R, Rapola J, Louhimo I
Prog Pediatr Surg 1989;24:186-92. doi: 10.1007/978-3-642-74493-8_20. PMID: 2513603

Diagnosis

Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Aldeiri B, Davidson JR, Eaton S, Coletta R, Cardoso Almeida A, Long AM, Knight M, Cross KM, Chouikh T, Iacobelli BD, Sarnacki S, Bagolan P, Cretolle C, Siminas S, Curry JI, Morabito A, De Coppi P
Eur J Pediatr Surg 2020 Jun;30(3):287-292. Epub 2019 Apr 30 doi: 10.1055/s-0039-1687868. PMID: 31039595
Rashid KA, Wakhlu A, Tandon RK, Husain N
Eur J Pediatr Surg 2008 Oct;18(5):303-6. doi: 10.1055/s-2008-1038607. PMID: 19051395
Matsumoto N, Niikawa N
Am J Med Genet C Semin Med Genet 2003 Feb 15;117C(1):57-65. doi: 10.1002/ajmg.c.10020. PMID: 12561059
Paidas CN
Semin Pediatr Surg 1997 Nov;6(4):228-34. PMID: 9368274

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
Gangopadhyay AN, Pandey V, Gupta DK, Sharma SP, Kumar V, Verma A
J Pediatr Surg 2016 Mar;51(3):430-4. Epub 2015 Sep 9 doi: 10.1016/j.jpedsurg.2015.09.003. PMID: 26607970
Tander B, Baskin D, Bulut M
Pediatr Surg Int 1999 Jul;15(5-6):409-10. doi: 10.1007/s003830050615. PMID: 10415302
Gerharz EW, Vik V, Webb G, Leaver R, Shah PJ, Woodhouse CR
J Am Coll Surg 1997 Dec;185(6):544-7. doi: 10.1016/s1072-7515(97)00125-7. PMID: 9404877

Prognosis

Gupta S, Gupta N, Tiwari P, Menon S, Mathur P, Kothari SL, Nallapeta S, Medicherla KM, Suravajhala P
Biomolecules 2018 Sep 17;8(3) doi: 10.3390/biom8030095. PMID: 30227690Free PMC Article
Keshtgar AS, Athanasakos E, Clayden GS, Ward HC
Pediatr Surg Int 2008 Aug;24(8):885-92. Epub 2008 May 30 doi: 10.1007/s00383-008-2181-1. PMID: 18512062
Wakhlu A, Pandey A, Prasad A, Kureel SN, Tandon RK, Wakhlu AK
Pediatr Surg Int 1997 Apr;12(4):283-5. doi: 10.1007/BF01372150. PMID: 9099646
Iskandar BJ, Oakes WJ, McLaughlin C, Osumi AK, Tien RD
J Neurosurg 1994 Oct;81(4):513-9. doi: 10.3171/jns.1994.81.4.0513. PMID: 7931583
Rintala R, Rapola J, Louhimo I
Prog Pediatr Surg 1989;24:186-92. doi: 10.1007/978-3-642-74493-8_20. PMID: 2513603

Clinical prediction guides

Lim JX, Fong E, Goh C, Ng LP, Merchant K, Low DCY, Seow WT, Low SYY
J Neurosurg Pediatr 2023 Mar 1;31(3):197-205. Epub 2022 Dec 2 doi: 10.3171/2022.8.PEDS22103. PMID: 36461829
Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Gupta S, Gupta N, Tiwari P, Menon S, Mathur P, Kothari SL, Nallapeta S, Medicherla KM, Suravajhala P
Biomolecules 2018 Sep 17;8(3) doi: 10.3390/biom8030095. PMID: 30227690Free PMC Article
Keshtgar AS, Athanasakos E, Clayden GS, Ward HC
Pediatr Surg Int 2008 Aug;24(8):885-92. Epub 2008 May 30 doi: 10.1007/s00383-008-2181-1. PMID: 18512062
Li L, Li Z, Wang LY, Xiao FD
J Pediatr Surg 1993 Jul;28(7):880-5. doi: 10.1016/0022-3468(93)90687-g. PMID: 8229559

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