Delayed patient presentation is an important causative factor. A 2.5-kg neonate presented 72 hours after birth with abdominal distention and absent anal opening with meconium pearls. An abdominal X-ray revealed the presence of free gas. [pediatr-neonatol.com]

Here we present a case of an adult female who was neglected since childhood and presented with congenital low type of anorectal malformation, we performed anal transposition which gave her a good outcome. 2. [hindawi.com]

We present two patients managed in our centre to highlight the challenges of management of this uncommon coexistence. [afrjpaedsurg.org]

A patient with persistent cloaca presents with a single perineal orifice; a lump representing distended vagina (hydrocolpos) may be present in up to 50% of patients [Figure 2].[7] In our study, persistent cloaca was present in 6.07% (13) of patients, [mjdrdypv.org]

They commonly present with soiling, obstipation and in need of an aggressive bowel regimen. It is clear that collaboration with nursing is key. [pedsurglibrary.com]

• Gangrene

  The downstream occlusion results in proximal intestinal dilatation and increase in intraluminal pressure resulting in tension gangrene. [pediatr-neonatol.com]

• Social Isolation

  The most common sequelae, when not treated properly, are faecal incontinence, urinary incontinence and sexual disfucntion.[2] As a consequence, social isolation can lead to depression and mental health issues. [hamdanjournal.org]

• Overflow Incontinence

  Patients like this are often referred with "fecal incontinence." However, if the patient has a good prognosis type of anorectal anomaly, often this incontinence is actually overflow pseudoincontinence. [ojrd.biomedcentral.com]

While anorectal malformations can occur as an isolated finding, they require additional workup as 60% of patients have an associated anomaly, and there is a correlation of anorectal malformations with the VACTERL defects (vertebral, anorectal, cardiac [statpearls.com]

With recognition and aggressive, proactive treatment, we have found that these morbidities can be reduced. [jpedsurg.org]

Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations. J Pediatr Surg. 2005;40:1521-6. Hedlund H, Pena A, Rodriguez G, Maza J. [ijsurgery.com]

Osteopathic manipulations including counter-strain treatment of the pelvic floor and balance and hold treatment of the sacrococcygeal ligaments. [karger.com]

Posterior sagittal anorectoplasty (PSARP) is now accepted as a standard treatment in children, but there is very little literature guiding an ideal treatment of anorectal malformation in adults. [hindawi.com]

[…] for the newborn, sophisticated approaches to the definitive reconstruction, and management of long-term treatments and outcomes. [thieme-connect.com]

If this is an isolated anomaly, the prognosis is excellent. For children with imperforate anus, a colostomy is often needed during the newborn period, but once the final surgery corrects the defect, the prognosis is likewise excellent. [drgreene.com]

especially in the initial years will ensure an excellent prognosis later.[27] Rectourethral fistula This is the most common anorectal malformation in males. [hamdanjournal.org]

Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. [ojrd.biomedcentral.com]

Follow-up study was required to evaluate anal function after the operation and Logistic regression analysis was used for analyzing the influencing factors of prognosis. [tandfonline.com]

These studies help to establish initial treatment and prognosis. How is ARM treated? All children with an ARM need at least one operation called an anorectoplasty or “pull-through”. [chp.edu]

INCIDENCE & ETIOLOGY: Minor abnormalities (1 in 500 live births) Major abnormalities (1 in 5000 live births) Boys commonly affected than girls. Etiology is unclear, Mutation in the genes responsible for this disorder. 4. [slideshare.net]

Etiology The etiology remains unclear and is likely multifactorial. Familial cases have been described. [orpha.net]

Chromosomal anomalies in the etiology of anorectal malformations: A review. Am J Med Genet Part A. 2011;155:2692–704. [nature.com]

Hirschsprung's disease: A search for etiology. Semin Pediatr Surg 1998;7:140-7. [PUBMED] 10. Taquchi T, Suita S, Hirata Y, Yamada T, Toyohara T. [afrjpaedsurg.org]

Etiology While a specific cause of anorectal malformations is not known, it is very likely that genetic factors play a role in their development. [statpearls.com]

Summary Epidemiology They occur in approximately 1 in 5000 live births. Clinical description Defects range from mild anal anomalies to complex cloacal malformations. [orpha.net]

Author information Affiliations Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, 84108, USA Craig C. Teerlink & Lisa A. [nature.com]

"Genetics, Pathogenesis and Epidemiology of Anorectal Malformations and Caudal Regression Syndrome". In Holschneider, Alexander Matthias; Hutson, John M. (eds.). [en.wikipedia.org]

Epidemiology: Anorectal malformations (ARM) occurs in 1 baby in every 5,000 live births. It is equally seen in boys and girls. Figure 1: Picture of a baby's bottom without an anal opening. Picture courtesy of MJArca 11/2016. [eapsa.org]

Rittler MPaz JECastilla EE VACTERL association, epidemiologic definition and delineation. Am J Med Genet. 1996;63529- 536Google ScholarCrossref [jamanetwork.com]

PATHOPHYSIOLOGY: Resulting in Anorectal Anomaly Union of anus and rectum does not occur If the membrane that separates anus and rectum is not absorbed By the 7th week of gestation membrane separates the rectum from anus Genitourinary tract originates [slideshare.net]

Pathophysiology Several theories address the pathophysiology and development of anorectal malformations. [statpearls.com]

Pathophysiology of chronic constipation on anorectal malformations. Long-term results and preliminary anatomical investigations.Eur J Pediatr Surg. 2001; 11: 305-310 Stephens F. [jpedsurg.org]

Better understanding of the pathophysiology of perforation in ARM and early surgical decompression of the obstructed colon can be expected to reduce mortality in future. 13 Raveenthiran V. [pediatr-neonatol.com]

Pathophysiology The embryogenesis of these malformations remains unclear. [emedicine.medscape.com]

How can anorectal malformations be prevented? Prevention is not generally effective. Anal stenosis, Imperforate anus, Recto-urethral fistula, Rectovesical fistula. [drgreene.com]

This should be preventable by passing the dilator daily for the first few months of life. In the longer term constipation may be a problem but this can usually be managed by diet or medication. [uhs.nhs.uk]

In this case anal dilation will be all that’s necessary and surgery can be prevented, unless the anus is in the wrong place. [pullthrough.org]

You will need to maintain good skin care in the diaper area or around the ostomy to prevent skin breakdown. If you child has an ostomy, you will be provided with appropriate supplies to care for this area. [luriechildrens.org]

In some centres, weekly dilations in the hospital are preferred to daily parental dilations allowing for sedation and better pain therapy to prevent trauma. [hamdanjournal.org]