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Isolated anorectal malformation

MedGen UID:
1830106
Concept ID:
C5680419
Congenital Abnormality
Synonyms: Congenital non-syndromic anorectal malformation; Non-syndromic anorectal malformation; Non-syndromic ARM; Non-syndromic ARM (anorectal malformation)
SNOMED CT: Non-syndromic anorectal malformation (1264114007); Non-syndromic ARM (anorectal malformation) (1264114007); Congenital non-syndromic anorectal malformation (1264114007)
 
Orphanet: ORPHA557

Definition

A wide spectrum of malformations involving the distal anus and rectum along with urinary and genital tracts, which can affect male or female. Defects range from mild anal anomalies to complex cloacal malformations. They can therefore be classified into the following groups: imperforated anus without fistula, ARM with rectourinary or rectogenital fistula and complex ARM (cloaca). Associated anomalies include genitourinary defects in approximately 50% of patients and spinal anomalies. The aetiology remains unclear and is likely multifactorial. Familial cases have been described. [from SNOMEDCT_US]

Professional guidelines

PubMed

Marcelis C, Dworschak G, de Blaauw I, van Rooij IALM
Eur J Pediatr Surg 2021 Dec;31(6):482-491. Epub 2021 Dec 15 doi: 10.1055/s-0041-1740338. PMID: 34911130
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
van den Hondel D, Wijers CH, van Bever Y, de Klein A, Marcelis CL, de Blaauw I, Sloots CE, IJsselstijn H
Eur J Pediatr 2016 Apr;175(4):489-97. Epub 2015 Oct 24 doi: 10.1007/s00431-015-2655-9. PMID: 26498647Free PMC Article

Recent clinical studies

Etiology

Vermes G, László D, Mátrai Á, Czeizel AE, Ács N
J Matern Fetal Neonatal Med 2016;29(14):2316-21. Epub 2015 Sep 15 doi: 10.3109/14767058.2015.1085014. PMID: 26372250
Vermes G, László D, Czeizel AE, Ács N
Congenit Anom (Kyoto) 2016 Jan;56(1):41-5. doi: 10.1111/cga.12130. PMID: 26259501
Boemers TM, van Gool JD, de Jong TP, Bax KM
J Urol 1994 Apr;151(4):1038-40. doi: 10.1016/s0022-5347(17)35171-6. PMID: 8126785

Prognosis

Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H
Birth Defects Res 2022 Jun;114(10):478-486. Epub 2022 Mar 31 doi: 10.1002/bdr2.2008. PMID: 35362267

Clinical prediction guides

Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H
Birth Defects Res 2022 Jun;114(10):478-486. Epub 2022 Mar 31 doi: 10.1002/bdr2.2008. PMID: 35362267
Boemers TM, van Gool JD, de Jong TP, Bax KM
J Urol 1994 Apr;151(4):1038-40. doi: 10.1016/s0022-5347(17)35171-6. PMID: 8126785

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