"Diagnosis" is by examination, either in an outpatient setting or under anaesthesia (referred to as — Examination Under Anaesthesia). The fistula may be explored by using a fistula probe (a narrow instrument). In this way, it may be possible to find both openings. The examination can be an anoscopy. Diagnosis may be aided by performing a fistulogram, proctoscopy and/or sigmoidoscopy.

Possible findings:

- The opening of the fistula onto the skin may be observed

- The area may be painful on examination

- There may be redness

- An area of induration may be felt — thickening due to chronic infection

- A discharge may be seen

CLASSIFICATIONS of ANAL FISTULA

- Park's Classification: This was done in 1976 by Parks et al from UK. This was done in the era when MRI or Endoanal Ultrasound was not there. It classified the fistula in four grades

- St James University Hospital Classification: This was done by Morris et al in the year 2000. This classification was improvement over Parks classification as it was based on MRI studies. It classified the fistula in five grades.

- Garg Classification: This was done by Pankaj Garg in 2017. This classification is improvement over both Parks and St James University Hospital Classification. This was based on MRI studies and operative findings in 440 patients. It classified the fistula in five grades. The grades of this classification correlate quite well with the severity of the disease. Grade I & II are simpler fistulas and can be managed by Fistulotomy whereas grade III-V are complex fistulas in which fistulotomy should be not be done. They should be managed by Fistula experts. Unlike Park's and St James University Hospital Classification, this correlation is quite accurate with Garg's classification. Therefore this new classification is useful to both surgeons and radiologists

Imperforate anus usually requires immediate surgery to open a passage for feces unless a fistula can be relied on until corrective surgery takes place. Depending on the severity of the imperforate, it is treated either with a perineal anoplasty or with a colostomy.

While many surgical techniques to definitively repair anorectal malformations have been described. The posterior sagittal approach (PSARP) has become the most popular. It involves dissection of the perineum without entry into the abdomen and 90% of defects in boys can be repaired this way.

An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.

When an infant is born with an anorectal malformation, it is usually detected quickly as it is a very obvious defect. Doctors will then determine the type of birth defect the child was born with and whether or not there are any associated malformations. It is important to determine the presence of any associated defects during the newborn period in order to treat them early and avoid further sequelae. There are two main categories of anorectal malformations: those that require a protective colostomy and those that do not. The decision to open a colostomy is usually taken within the first 24 hours of birth.

Sonography can be used to determine the type of imperforate anus.

Colostomy is recommended by most surgeons, and has a good prognosis, with 90% of patients regaining normal bowel control. Since the rectal opening and anal orifice in a vestibular fistula tend to be short and narrow, a colostomy is usually performed to allow decompression of the bowel unless the orifice is wide enough to allow normal defecation. Colostomy is often followed by posterior sagittal anorectoplasty (PSARP), a surgical procedure to repair the anal orifice, at a later date. Some surgeons prefer to perform an immediate PSARP without a colostomy first, while others perform neither a colostomy nor a PSARP and instead opt for a simple dilatation of the orifice to allow stool to pass and the bowel to decompress. It has been suggested that only experienced surgeons should perform repair without an initial colostomy.

Other conditions in which infected perianal "holes" or openings may appear include Pilonidal cysts/sinuses.

An imperforate hymen is most often diagnosed in adolescent girls after the age of menarche with otherwise normal development. In adolescent girls of menarcheal age, the typical presentation of the condition is amennorhea and cyclic pelvic pain, indicative of hematocolpos secondary to vaginal obstruction. An imperforate hymen is usually visible on vaginal inspection as a bulging blue membrane. If hematocolpos is present, a mass is often palpable on abdominal or rectal examination. The diagnosis of an imperforate hymen is usually made based purely on the physical exam, although if necessary the diagnosis can be confirmed by transabdominal, transperineal or transrectal ultrasound.

An imperforate hymen can also be diagnosed in newborn babies and it is occasionally detected on ultrasound scans of the foetus during pregnancy. In newborns the diagnosis is based on the findings of an abdominal or pelvic mass or a bulging hymen. Examination of the normal neonatal vagina usually reveals a track of mucus at the posterior commissure of the labia majora; an absence of mucus may indicate an imperforate hymen or another vaginal obstruction.

A similar condition, cribriform hymen, is diagnosed when the hymen contains many minute openings.

The diagnosis of a rectovestibular fistula can be made in female newborns if the vulva is stained with meconium (the earliest form of stool in an infant). The opening of the anus may be difficult to see due to its small size and position, but it may be visible as a thickening of the median perineal raphe with an obvious anal dimple. Patients with rectovestibular fistulae are commonly misdiagnosed with rectovaginal fistulae.

This condition takes several different forms, often involving one or more fistulas connecting the trachea to the esophagus (tracheoesophageal fistula).

After diagnosing rectovaginal fistula, it is best to wait for around 3 months to allow the inflammation to subside. For low fistulae, a vaginal approach is best, while an abdominal repair would be necessary for a high fistula at the posterior fornix.

A circular incision is made around the fistula and vagina is separated from the underlying rectum with a sharp circumferential dissection. The entire fistulous tract, along with a small rim of rectal mucosa is incised. The rectal wall is then closed extramucosally.

Most rectovaginal fistuals will need surgery to fix. Medications such as antibiotics and Infliximab might be prescribed to help close the rectovaginal fistula or prepare for surgery.

Although SRUS is not a medically serious disease, it can be the cause of significantly reduced quality of life for patients. It is difficult to treat, and treatment is aimed at minimizing symptoms.

Stopping straining during bowel movements, by use of correct posture, dietary fiber intake (possibly included bulk forming laxatives such as psyllium), stool softeners (e.g. polyethylene glycol, and biofeedback retraining to coordinate pelvic floor during defecation.

Surgery may be considered, but only if non surgical treatment has failed and the symptoms are severe enough to warrant the intervention. Improvement with surgery is about 55-60%.

Ulceration may persist even when symptoms resolve.

This condition may be visible, after about 26 weeks, on an ultrasound. On antenatal USG, the finding of an absent or small stomach in the setting of polyhydramnios was considered a potential symptom of esophageal atresia. However, these findings have a low positive predictive value. The upper neck pouch sign is another sign that helps in the antenatal diagnosis of esophageal atresia and it may be detected soon after birth as the affected infant will be unable to swallow its own saliva. Also, the newborn can present with gastric distention, cough, apnea, tachypnea, and cyanosis. In many types of esophageal atresia, a feeding tube will not pass through the esophagus.

This investigation is used to diagnose internal intussusception, or demonstrate a suspected external prolapse that could not be produced during the examination. It is usually not necessary with obvious external rectal prolapse. Defecography may demonstrate associated conditions like cystocele, vaginal vault prolapse or enterocele.

The prognostic outcomes for this type of cloaca are good for bowel control and urinary function. The surgical repair for this type of cloaca can usually be done by performing posterior sagittal approach without opening of the abdomen. A common channel longer than 3 cm in length usually has poor sphincter muscles and a poor sacrum, suggesting a prognostic outcome for bowel control and urinary function to be less likely. Common channels longer than 3 cm are generally considered more complex and more technically challenging in surgical repair.

Before surgical intervention in adolescents, symptoms can be relieved by the combined oral contraceptive pill taken continuously to suppress the menstrual cycle or NSAIDs to relieve pain. Surgical treatment of the imperforate hymen by hymenotomy typically involves making cruciate incisions in the hymen, excising segments of hymen from their bases, and draining the vaginal canal and uterus. For affected girls who wish (or whose parents wish) to have their hymens preserved, surgical techniques to excise of a central flange of the hymen can be used. The timing of surgical hymen repair is controversial: some doctors believe it is best to intervene immediately after the neonatal period, while others believe that surgical repair should be delayed until puberty, when estrogenization is complete.

Rectovaginal fistulas are often the result of trauma during childbirth (in which case it is known as obstetric fistula) where improper medical interventions are used, such as episiotomy with forceps/vacuum extraction or in situations where there is inadequate health care, such as in some developing countries. Rectovaginal fistula is said to be known as the leading cause in maternal death in developing countries. Risk factors include prolonged labour, difficult instrumental delivery and paramedian episiotomy. Rates in Eritrea are estimated as high as 350 per 100,000 vaginal births. Fistulas can also develop as a result of physical trauma to either the vagina or anus, including from rape. Women with rectovaginal fistulae are often stigmatized in developing countries, and become outcasts.

Rectovaginal fistula can also be a symptom of various diseases, including infection by lymphogranuloma venereum, or the unintended result of surgery, such as episiotomy or sexual reassignment surgery. They may present as a complication of vaginal surgery, including vaginal hysterectomy. They are a recognized presentation of rectal carcinoma or rarely diverticular disease of the bowel or Crohn's disease. They are seen rarely after radiotherapy treatment for cervical cancer.

Diagnosis of a female with cloaca should be suspected in a female born with an imperforate anus and small looking genitalia. The diagnosis can be made clinically. Failure to identify a cloaca as being present in a newborn may be dangerous, as more than 90% have associated urological problems. The goal for treatment of a female born with cloaca is to achieve bowel control, urinary control, and sexual function, which includes menstruation, sexual intercourse, and possibly pregnancy. Cloacas probably occur in 1 in 20,000 live births.

Anorectal anomalies are medical problems affecting the structure of the anus and rectum. A person with an anorectal problem would have some sort of deformative feature of the anus or rectum, collectively known as an anorectal malformation.

Examples of anorectal anomalies include:

- Anal stenosis

- Imperforate anus

- Proctitis

- Anal bleeding

- Anal fistula

- Anal cancer

- Anal itching

- Hemorrhoid (piles)

International Omphalocele Awareness Day is celebrated annually on January 31, as part of Birth Defect Awareness Month. Several U.S. states have passed resolutions to officially recognize the date.

Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.

Examples of atresia include:

- Biliary atresia, a condition in newborns in which the common bile duct between the liver and the small intestine is blocked or absent.

- Choanal atresia, blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.

- Esophageal atresia, which affects the alimentary tract and causes the esophagus to end before connecting normally to the stomach.

- Imperforate anus, malformation of the opening between the rectum and anus.

- Intestinal atresia, malformation of the intestine, usually resulting from a vascular accident in utero.

- Microtia, absence of the ear canal or failure of the canal to be tubular or fully formed (can be related to Microtia, a congenital deformity of the pinna, or outer ear).

- Ovarian follicle atresia, the degeneration and subsequent resorption of one or more immature ovarian follicles.

- Potter sequence, congenital decreased size of the kidney leading to absolutely no functionality of the kidney, usually related to a single kidney.

- Pulmonary atresia, malformation of the pulmonary valve in which the valve orifice fails to develop.

- Renal agenesis, only having one kidney.

- Tricuspid atresia, a form of congenital heart disease whereby there is a complete absence of the tricuspid valve, and consequently an absence of the right atrioventricular connection.

- Vaginal atresia, a congenital occlusion of the vagina or subsequent adhesion of the walls of the vagina, resulting in its occlusion.

With early intervention, morbidity and mortality of cases of intestinal obstruction is low. The outcome is in part dependent upon congenital comorbidities and delays in diagnosis and management.

The prognosis for vaginal atresia is one that is complicated. There are variations in patients' anatomic findings as well as an absence in consistent surgical techniques which makes it difficult to give a prognosis for this condition. Along with other conditions that give rise to an abnormal perineum (i.e. ambiguous genitalia and other various abnormalities that range from cloaca to urogenital sinus), individuals with vaginal atresia often report reconstruction as an outcome of treatment. Due to this, it is difficult to compare outcomes between individuals with vaginal atresia.

Physical examination can rule out anismus (by identifying another cause) but is not sufficient to diagnose anismus.

The rectal cooling test is suggested to differentiate between rectal inertia and impaired relaxation/paradoxical contraction

Other techniques include manometry, balloon expulsion test, evacuation proctography (see defecating proctogram), and MRI defecography. Diagnostic criteria are: fulfillment of criteria for functional constipation, manometric and/or EMG and/or radiological evidence (2 out of 3), evidence of adequate expulsion force, and evidence of incomplete evacuation. Recent dynamic imaging studies have shown that in persons diagnosed with anismus the anorectal angle during attempted defecation is abnormal, and this is due to abnormal (paradoxical) movement of the puborectalis muscle.

Neonatal bowel obstruction is grouped into two general categories: high, or proximal, obstruction and low, or distal obstruction, both of which are suspected by failure to pass meconium at birth. High obstruction can be suspected based on the double bubble sign. Cases without distal gas are usually related to duodenal atresia, while high obstruction with distal gas need an upper gastrointestinal series because of the need to distinguish duodenal web, duodenal stenosis and annular pancreas from midgut volvulus, the latter being a surgical emergency. Confirmation is ultimately by surgical intervention.

A low obstruction is suspected on plain film, but needs follow up with a gastrografin enema, which itself can be therapeutic. The differential for low obstruction is ileal atresia, meconium ileus, meconium plug syndrome and Hirschsprung disease. In cases of meconium ileus or ileal atresia, the colon distal to the obstruction is hypoplastic, usually less than 1 cm in caliber, as development of normal colonic caliber "in utero" is due to the passage of meconium, which does not occur in either of these conditions. When diffusely small caliber is seen, it is referred to as microcolon. Radiographs in meconium ileus classically demonstrate a bubbly appearance in the right lower quadrant due to a combination of ingested air and meconium. If, on contrast enema, reflux into the dilated distal small bowel loops can be achieved, the study is both diagnostic and therapeutic, as the ionic contrast medium can dissolve the meconium to allow passage of enteric content into the unused colon.

If contrast cannot be refluxed into the distal small bowel, ileal atresia remains a diagnostic possibility. Jejunal and ileal atresia are caused by "in utero" vascular insults, leading to poor recanalization of distal small bowel segments, a condition in which surgical resection and reanastamosis are mandatory. Hirschsprung disease is due to an arrest in neural cell ganglia, leading to absent innervation of a segment distal bowel, and appears as a massively dilated segment of distal bowel on contrast enema. Surgical resection is necessary for this condition as well. Imperforate anus also requires surgical management, with the diagnosis made by inability to pass the rectal tube through the anal sphincter. Supportive intravenous hydration, gastric decompression, and ventilatory support may be needed due to poor neonatal nutrition resulting from dysfunctional bowel absorption.