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Imperforate anus

MedGen UID:
1997
Concept ID:
C0003466
Disease or Syndrome
Synonyms: Anal atresia; Anorectal atresia; Anorectal malformation; Anorectal stenosis
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
SNOMED CT: Anal atresia (204712000); Aproctia (204712000); Atresia ani (204712000); Congenital atresia of anus (204712000); Imperforate anus (204731006); Congenital imperforate anus (204731006)
 
OMIM®: 207500

Definition

A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME. [from MeSH]

Clinical features

Hypospadias
MedGen UID:
504317
Concept ID:
CN000047
Finding
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Anal atresia
MedGen UID:
505058
Concept ID:
CN001831
Finding
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Ectopic anus
MedGen UID:
505626
Concept ID:
CN003895
Finding
Abnormal displacement or malposition of the anus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGImperforate anus

Recent clinical studies

Etiology

Beudeker N, Broadis E, Borgstein E, Heij HA
Afr J Paediatr Surg 2013 Oct-Dec;10(4):302-6. doi: 10.4103/0189-6725.125417. PMID: 24469477
Phillips TM, Salmasi AH, Stec A, Novak TE, Gearhart JP, Mathews RI
J Pediatr Urol 2013 Jun;9(3):353-8. Epub 2012 May 27 doi: 10.1016/j.jpurol.2012.04.017. [Epub ahead of print] PMID: 22640865
Halibieke A, Miyano G, Kato Y, Koga H, Shimotakahara A, Lane G, Okazaki T, Urao M, Yamataka A
Asian J Endosc Surg 2012 May;5(2):59-62. Epub 2012 Jan 20 doi: 10.1111/j.1758-5910.2011.00127.x. [Epub ahead of print] PMID: 22776365
Wong KK, Wu X, Chan IH, Tam PK
J Pediatr Surg 2011 Dec;46(12):2313-5. doi: 10.1016/j.jpedsurg.2011.09.021. PMID: 22152872
Tong QS, Tang ST, Pu JR, Mao YZ, Wang Y, Li SW, Cao QQ, Ruan QL
J Pediatr Surg 2011 Aug;46(8):1578-86. doi: 10.1016/j.jpedsurg.2011.04.059. PMID: 21843727

Diagnosis

Dumitrascu O, Lyden P, Danielpour M, Moser F
Neurology 2015 Apr 14;84(15):e117. doi: 10.1212/WNL.0000000000001469. PMID: 25870458Free PMC Article
Gorman KM, Aworanti OM, Gillick J, Capra L
J Pediatr 2015 Apr;166(4):1090-e1. Epub 2015 Feb 7 doi: 10.1016/j.jpeds.2014.12.071. [Epub ahead of print] PMID: 25662829
Yamaçake KG, Giron AM, Tannuri U, Srougi M
Einstein (Sao Paulo) 2014 Apr;12(2):234-6. PMID: 25003932
Beudeker N, Broadis E, Borgstein E, Heij HA
Afr J Paediatr Surg 2013 Oct-Dec;10(4):302-6. doi: 10.4103/0189-6725.125417. PMID: 24469477
Yamataka A, Lane GJ, Koga H
Pediatr Surg Int 2013 Oct;29(10):1007-11. doi: 10.1007/s00383-013-3391-8. PMID: 23989601

Therapy

Lloyd JC, Wiener JS, Gargollo PC, Inman BA, Ross SS, Routh JC
J Urol 2013 Oct;190(4 Suppl):1590-5. Epub 2013 Jun 21 doi: 10.1016/j.juro.2013.04.034. [Epub ahead of print] PMID: 23791903
Webb KM, Culumovic PJ
Am Surg 2011 Sep;77(9):1273-4. PMID: 21944643
Castle SL, Naik-Mathuria BJ, Torres MB
J Pediatr Surg 2011 Jul;46(7):1432-4. doi: 10.1016/j.jpedsurg.2011.01.024. PMID: 21763847
Koga H, Miyano G, Takahashi T, Shimotakahara A, Kato Y, Lane GJ, Okazaki T, Yamataka A
J Pediatr Surg 2010 Dec;45(12):2394-7. doi: 10.1016/j.jpedsurg.2010.08.041. PMID: 21129553
Breckler FD, Rescorla FJ, Billmire DF
J Pediatr Surg 2010 Jul;45(7):1509-13. doi: 10.1016/j.jpedsurg.2009.10.054. PMID: 20638534

Prognosis

Beudeker N, Broadis E, Borgstein E, Heij HA
Afr J Paediatr Surg 2013 Oct-Dec;10(4):302-6. doi: 10.4103/0189-6725.125417. PMID: 24469477
Yamataka A, Lane GJ, Koga H
Pediatr Surg Int 2013 Oct;29(10):1007-11. doi: 10.1007/s00383-013-3391-8. PMID: 23989601
McPherson E, Cold C
Am J Med Genet A 2013 Oct;161A(10):2666-9. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36117. [Epub ahead of print] PMID: 23950073
Halibieke A, Miyano G, Kato Y, Koga H, Shimotakahara A, Lane G, Okazaki T, Urao M, Yamataka A
Asian J Endosc Surg 2012 May;5(2):59-62. Epub 2012 Jan 20 doi: 10.1111/j.1758-5910.2011.00127.x. [Epub ahead of print] PMID: 22776365
Tong QS, Tang ST, Pu JR, Mao YZ, Wang Y, Li SW, Cao QQ, Ruan QL
J Pediatr Surg 2011 Aug;46(8):1578-86. doi: 10.1016/j.jpedsurg.2011.04.059. PMID: 21843727

Clinical prediction guides

Halibieke A, Miyano G, Kato Y, Koga H, Shimotakahara A, Lane G, Okazaki T, Urao M, Yamataka A
Asian J Endosc Surg 2012 May;5(2):59-62. Epub 2012 Jan 20 doi: 10.1111/j.1758-5910.2011.00127.x. [Epub ahead of print] PMID: 22776365
Tong QS, Tang ST, Pu JR, Mao YZ, Wang Y, Li SW, Cao QQ, Ruan QL
J Pediatr Surg 2011 Aug;46(8):1578-86. doi: 10.1016/j.jpedsurg.2011.04.059. PMID: 21843727
Koga H, Miyano G, Takahashi T, Shimotakahara A, Kato Y, Lane GJ, Okazaki T, Yamataka A
J Pediatr Surg 2010 Dec;45(12):2394-7. doi: 10.1016/j.jpedsurg.2010.08.041. PMID: 21129553
Yesildag E, Muñiz RM, Buyukunal SN
Pediatr Surg Int 2010 Dec;26(12):1149-58. Epub 2010 Aug 13 doi: 10.1007/s00383-010-2672-8. [Epub ahead of print] PMID: 20706726
Hashish MS, Dawoud HH, Hirschl RB, Bruch SW, El Batarny AM, Mychaliska GB, Drongowski RA, Ehrlich PF, Hassaballa SZ, El-Dosuky NI, Teitelbaum DH
J Pediatr Surg 2010 Jan;45(1):224-30. doi: 10.1016/j.jpedsurg.2009.10.041. PMID: 20105608

Recent systematic reviews

Huibregtse EC, Draaisma JM, Hofmeester MJ, Kluivers K, van Rooij IA, de Blaauw I
Pediatr Surg Int 2014 Aug;30(8):773-81. Epub 2014 Jun 27 doi: 10.1007/s00383-014-3535-5. [Epub ahead of print] PMID: 24969818
van den Hondel D, Sloots C, Meeussen C, Wijnen R
Eur J Pediatr Surg 2014 Feb;24(1):61-9. Epub 2013 Aug 5 doi: 10.1055/s-0033-1351663. [Epub ahead of print] PMID: 23918670
Versteegh HP, van Rooij IA, Levitt MA, Sloots CE, Wijnen RM, de Blaauw I
J Pediatr Surg 2013 Nov;48(11):2343-50. doi: 10.1016/j.jpedsurg.2013.08.027. PMID: 24210210
Hofmann AD, Puri P
Pediatr Surg Int 2013 Sep;29(9):913-7. doi: 10.1007/s00383-013-3352-2. PMID: 23948812
Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, Hoffmann P, Nöthen MM, Reutter H, Ludwig M
Pediatr Surg Int 2012 Jul;28(7):725-9. Epub 2012 Mar 16 doi: 10.1007/s00383-012-3073-y. [Epub ahead of print] PMID: 22422375

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