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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.
See: Feature record | Search on this feature
Rectovaginal fistula
MedGen UID:
11152
•Concept ID:
C0034895
•
Finding
The presence of a fistula between the vagina and the rectum.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Use of Peristeen® transanal colonic irrigation for bowel management in children: a single-center experience.
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
Anorectal junction stenosis: diagnosis and management.
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
Somatic function, mental health, and psychosocial adjustment of adolescents with anorectal anomalies.
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

Fibrofatty filum terminale: long-term outcomes from a Singapore children's hospital.
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
Fecal incontinence in children with anorectal malformations.
Paidas CN
Semin Pediatr Surg 1997 Nov;6(4):228-34. PMID: 9368274
Perineal canal.
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
Terminal syringohydromyelia and occult spinal dysraphism.
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
Neuronal intestinal dysplasia.
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

Congenital perineal grove: an unusual Anorectal anomaly in females-report of two cases and literature review.
Dilawar B, Khan A, Dilawar S, Nazir Z
J Pak Med Assoc 2023 Jun;73(6):1311-1313. doi: 10.47391/JPMA.6803. PMID: 37427639
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
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
Variations in the Detection of Anorectal Anomalies at Birth among European Cities.
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
Anorectal junction stenosis: diagnosis and management.
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
Kabuki make-up syndrome: a review.
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

Therapy

Is Pouch Specific to Colon and Not Ileum?
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
Assessment and comparison of fecal continence in children following primary posterior sagittal anorectoplasty and abdominoperineal pull through for anorectal anomaly using clinical scoring and MRI.
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
A case of incomplete Currarino triad with malignant transformation.
Tander B, Baskin D, Bulut M
Pediatr Surg Int 1999 Jul;15(5-6):409-10. doi: 10.1007/s003830050615. PMID: 10415302
The value of the MACE (Malone antegrade colonic enema) procedure in adult patients.
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

Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon.
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
Evaluation of outcome of anorectal anomaly in childhood: the role of anorectal manometry and endosonography.
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
Perineal canal.
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
Terminal syringohydromyelia and occult spinal dysraphism.
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
Neuronal intestinal dysplasia.
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

Fibrofatty filum terminale: long-term outcomes from a Singapore children's hospital.
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
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.
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
Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon.
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
Evaluation of outcome of anorectal anomaly in childhood: the role of anorectal manometry and endosonography.
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
Anorectal anomaly: neuropathological changes in the sacral spinal cord.
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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