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Imperforate anus information


Imperforate anus - Anorectal malformations
Other namesAnorectal malformations
An X-ray showing imperforate anus
SpecialtyMedical genetics Edit this on Wikidata

An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies.[1] The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs.[2] Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.[clarification needed][1][3]

  1. ^ a b Nixon, H. H. (14 November 2006). Holschneider, Alexander Matthias; Hutson, John M. (eds.). Anorectal Malformations in Children. Vol. 65. Springer. p. 819. doi:10.1007/978-3-540-31751-7. ISBN 978-3-540-31750-0. PMC 1644586. Retrieved 15 September 2013. {{cite book}}: |journal= ignored (help)
  2. ^ Moore, Samuel W (14 November 2006). "Genetics, Pathogenesis and Epidemiology of Anorectal Malformations and Caudal Regression Syndrome". In Holschneider, Alexander Matthias; Hutson, John M. (eds.). Anorectal Malformations in Children. Springer. pp. 31–48. doi:10.1007/978-3-540-31751-7_3. ISBN 978-3-540-31750-0.
  3. ^ Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW (January 2000). "Involvement of the HLXB9 homeobox gene in Currarino syndrome". American Journal of Human Genetics. 66 (1): 312–9. doi:10.1086/302723. PMC 1288336. PMID 10631160.

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Imperforate anus

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An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies...

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Anus

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intestine Anorectal manometry – Medical functional test of the anus and rectum Imperforate anus – Birth defect of malformed rectum Helms, Doris R.; Helms,...

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Cloacal exstrophy

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doi:10.1016/j.epsc.2018.05.016. "Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex". Genetic and Rare Diseases Information...

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Atresia

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Imperforate anus is a somewhat common anomaly, with a newborn incidence ranging from 1: 1500 to 1:5000. There have been isolated cases of imperforate...

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Anorectal anomalies

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Anorectal anomalies are congenital malformations of the anus and rectum. One anal anomaly, imperforate anus has an estimated incidence of 1 in 5000 births. It...

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Cat eye syndrome

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depressions/growths of skin on the outer ears) Anal atresia (abnormal obstruction of the anus) Downward-slanting palpebral fissures (openings between the upper and lower...

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FG syndrome

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severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance...

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Caudal duplication

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systems. The syndrome may cause functional impairments such as an imperforate anus and hernia which may lead to death due to shock and organ failure and...

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Caudal regression syndrome

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be present. A permanent colostomy may be necessary in the case of imperforate anus. Incontinence may also require some type of continence control system...

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Mandarin Chinese profanity

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or pìyǎnr (屁眼兒) one expression for anus, is not vulgar, but it occurs in various curses involving an imperforate anus sǐ pì yǎn (Chinese: 死屁眼) damned asshole...

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Colorectal surgery

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protrusion of the walls of the rectum through the anus (rectal prolapse) birth defects such as the imperforate anus treatment of severe colic disorders, such...

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Diphallia

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associated with complex genitourinary and ano-rectal malformation. He had imperforated anus, hypospadias, bifid scrotum, meatuses on both glandes, two bladders...

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Rectovaginal fistula

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fusion. This type of fistula can cause pediatricians to misdiagnose imperforate anus. The severity of the symptoms will depend on the size of fistula. Most...

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Bowel management

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continent. Children who have fecal incontinence after the repair of an imperforate anus are usually those born with a bad prognosis type of defect and severe...

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Vaginal atresia

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McKusick-Kaufman syndrome has vaginal atresia that is often present with imperforate anus, heart defects, hydrometrocolpos, and/or polydactyly, The female will...

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Delayed ejaculation

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Müllerian duct cyst, Wolfian duct abnormalities, prune belly syndrome, imperforate anus, congenital ejaculatory duct obstruction, genetic abnormalities including...

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Constipation

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can lead to constipation, including anterior displacement of the anus, imperforate anus, strictures, and small left colon syndrome. The diagnosis is typically...

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Currarino syndrome

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over time following transdural ligation of its neck.[citation needed] Imperforate anus Weber, Stefanie; Dávila, Magdalena (2014). "German approach of coding...

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Constipation in children

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anterior displacement of the anus, imperforate anus, strictures, and small left colon syndrome. Anterior displacement of the anus can be diagnosed on physical...

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Down syndrome

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the colon. Other congenital problems can include duodenal atresia, imperforate anus and gastroesophageal reflux disease. Celiac disease affects about 7–20%...

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Rectal examination

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felt, a visual inspection may be more useful; in newborns to exclude imperforate anus; through the insertion of medical devices including thermometers or...

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13q deletion syndrome

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gallbladder, and thyroid; Hirschsprung's disease; gastric reflux, imperforate anus, retention testis, ectopic kidney, renal agenesis, and hydronephrosis...

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Anal plug

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PMID 32644691, retrieved 2023-08-01 Singh, Meenakshi; Mehra, Kashish (2023), "Imperforate Anus", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 31747191...

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Omphalocele

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Beckwith–Wiedemann and OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).[citation needed] After surgery a child with omphalocele...

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Persistent cloaca

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female with a cloaca should be suspected in a female born with an imperforate anus and small looking genitalia. The diagnosis can be made clinically with...

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VACTERL association

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for developing scoliosis, or curvature of the spine. Anal atresia or imperforate anus is seen in about 55 to 90 percent of patients with VACTERL association...

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