Rectovestibular fistula is the most common defect of the rectum and anal canal in females.

Imperforate anus has an estimated incidence of 1 in 5000 births. It affects boys and girls with similar frequency. However, imperforate anus will present as the low version 90% of the time in females and 50% of the time in males.

Imperforate anus is an occasional complication of sacrococcygeal teratoma.

With a high lesion, many children have problems controlling bowel function and most also become constipated. With a low lesion, children generally have good bowel control, but they may still become constipated.

For children who have a poor outcome for continence and constipation from the initial surgery, further surgery to better establish the angle between the anus and the rectum may improve continence and, for those with a large rectum, surgery to remove that dilated segment may significantly improve the bowel control for the patient. An antegrade enema mechanism can be established by joining the appendix to the skin (Malone stoma); however, establishing more normal anatomy is the priority.

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.

Imperforate hymen is the most common vaginal obstruction of congenital origin. Estimates of the frequency of imperforate hymen vary from 1 in 1000 to 1 in 10,000 females.

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)

A rectovestibular fistula, also referred to simply as a vestibular fistula, is an anorectal congenital disorder where an abnormal connection (fistula) exists between the rectum and the vulval vestibule of the female genitalia.

If the fistula occurs within the hymen, it is known as a rectovaginal fistula, a much rarer condition.

A rectovaginal fistula is a medical condition where there is a fistula or abnormal connection between the rectum and the vagina.

Rectovaginal fistula may be extremely debilitating. If the opening between the rectum and vagina is wide it will allow both flatulence and feces to escape through the vagina, leading to fecal incontinence. There is an association with recurrent urinary and vaginal infections. The fistula may also connect the rectum and urethra, which is called recto-urethral fistula. Either conditions can lead to labial 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 often, it appears after about one week or so after delivery.

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.

Cloacas appear in a wide spectrum of variation in females born with the malformation. The single orifice, called a common channel, may occur varying in length from 1 to 10 cm. The length of the common channel can be used to judge prognostic outcomes and technical challenges during surgical repair. A common channel less than 3 cm in length usually has good sphincter muscles and a well-developed sacrum.

It occurs in approximately 1 in 2500 live births.

Congenital esophageal atresia (EA) represents a failure of the esophagus to develop as a continuous passage. Instead, it ends as a blind pouch. Tracheoesophageal fistula (TEF) represents an abnormal opening between the trachea and esophagus. EA and TEF can occur separately or together. EA and TEF are diagnosed in the ICU at birth and treated immediately.

The presence of EA is suspected in an infant with excessive salivation (drooling) and in a newborn with drooling that is frequently accompanied by choking, coughing and sneezing. When fed, these infants swallow normally but begin to cough and struggle as the fluid returns through the nose and mouth. The infant may become cyanotic (turn bluish due to lack of oxygen) and may stop breathing as the overflow of fluid from the blind pouch is aspirated (sucked into) the trachea. The cyanosis is a result of laryngospasm (a protective mechanism that the body has to prevent aspiration into the trachea). Over time respiratory distress will develop.

If any of the above signs/symptoms are noticed, a catheter is gently passed into the esophagus to check for resistance. If resistance is noted, other studies will be done to confirm the diagnosis. A catheter can be inserted and will show up as white on a regular x-ray film to demonstrate the blind pouch ending. Sometimes a small amount of barium (chalk-like liquid) is placed through the mouth to diagnose the problems.

Treatment of EA and TEF is surgery to repair the defect. If EA or TEF is suspected, all oral feedings are stopped and intravenous fluids are started. The infant will be positioned to help drain secretions and decrease the likelihood of aspiration. Babies with EA may sometimes have other problems. Studies will be done to look at the heart, spine and kidneys.

Surgery to repair EA is essential as the baby will not be able to feed and is highly likely to develop pneumonia. Once the baby is in condition for surgery, an incision is made on the side of the chest. The esophagus can usually be sewn together. Following surgery, the baby may be hospitalized for a variable length of time. Care for each infant is individualized.

Its very commonly seen in a newborn with imperforate anus.

An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina. It is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It is treated by surgical incision of the hymen.

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.

A method for repairing long-gap esophageal atresia using magnets has been developed, that does not require replacing the missing section with grafts of the intestine or other body parts. Using electromagnetic force to attract the upper and lower ends of the esophagus together was first tried in the 1970s by using steel pellets attracted to each other by applying external electromagnets to the patient. In the 2000s a further refinement was developed by Mario Zaritzky's group and others. The newer method uses permanent magnets and a balloon.

1. The magnets are inserted into the upper pouch via the baby's mouth or nose, and the lower via the gastrotomy feeding tube hole (which would have had to be made anyway to feed the baby, therefore not requiring any additional surgery).

2. The distance between the magnets is controlled by a balloon in the upper pouch, between the end of the pouch and the magnet. This also controls the force between the magnets so it is not strong enough to cause damage.

3. After the ends of the esophagus have stretched enough to touch, the upper magnet is replaced by one without a balloon and the stronger magnetic attraction causes the ends to fuse (anastomosis).

In April 2015 Annalise Dapo became the first patient in the United States to have their esophageal atresia corrected using magnets.

Anal fistula (plural fistulae), or fistula-in-ano, is a chronic abnormal communication between the epithelialised surface of the anal canal and (usually) the perianal skin. An anal fistula can be described as a narrow tunnel with its internal opening in the anal canal and its external opening in the skin near the anus. Anal fistulae commonly occur in people with a history of anal abscesses. They can form when anal abscesses do not heal properly.

Anal fistulae originate from the anal glands, which are located between the internal and external anal sphincter and drain into the anal canal. If the outlet of these glands becomes blocked, an abscess can form which can eventually extend to the skin surface. The tract formed by this process is a fistula.

Abscesses can recur if the fistula seals over, allowing the accumulation of pus. It can then extend to the surface again - repeating the process.

Anal fistulae "per se" do not generally harm, but can be very painful, and can be irritating because of the drainage of pus (it is also possible for formed stools to be passed through the fistula). Additionally, recurrent abscesses may lead to significant short term morbidity from pain and, importantly, create a starting point for systemic infection.

Treatment, in the form of surgery, is considered essential to allow drainage and prevent infection. Repair of the fistula itself is considered an elective procedure which many patients opt for due to the discomfort and inconvenience associated with an actively draining fistula.

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.

A group of conditions known as Mucosal prolapse syndrome (MPS) has now been recognized. It includes SRUS, rectal prolapse, proctitis cystica profunda, and inflammatory polyps. It is classified as a chronic benign inflammatory disorder. The unifying feature is varying degrees of rectal prolapse, whether internal intussusception (occult prolapse) or external prolapse.

Depending on their relationship with the internal and external sphincter muscles, fistulae are classified into five types:

- Extrasphincteric fistulae begin at the rectum or sigmoid colon and proceed downward, through the levator ani muscle and open into the skin surrounding the anus. Note that this type does not arise from the dentate line (where the anal glands are located). Causes of this type could be from a rectal, pelvic or supralevator origin, usually secondary to Crohn's disease or an inflammatory process such as appendiceal or diverticular abscesses.

- Suprasphincteric fistulae begin between the internal and external sphincter muscles, extend above and cross the puborectalis muscle, proceed downward between the puborectalis and levator ani muscles, and open an inch or more away from the anus.

- Transphincteric fistulae begin between the internal and external sphincter muscles or behind the anus, cross the external sphincter muscle and open an inch or more away from the anus. These may take a 'U' shape and form multiple external openings. This is sometimes termed a 'horseshoe fistula.'

- Intersphincteric fistulae begin between the internal and external sphincter muscles, pass through the internal sphincter muscle, and open very close to the anus.

- Submucosal fistulae pass superficially beneath the submucosa and do not cross either sphincter muscle.

Gastroschisis is a similar birth defect, but in gastroschisis the umbilical cord is not involved and the lesion is usually to the right of midline. Parts of organs may be free in the amniotic fluid, and not enclosed in a membranous (peritoneal) sac. Gastroschisis is less frequently associated with other defects than omphalocele.

Omphaloceles occurs more frequently with increased maternal age.

Other related syndromes are Pentalogy of Cantrell, Beckwith-Wiedemann, and OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).

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.

Rectoceles result from the weakening of the pelvic floor also called pelvic organ prolapse. Weakened pelvic structures occur as a result of an episiotomy during previous births, even decades later. Other causes of pelvic floor prolapse can be advanced age, multiple vaginal deliveries, and birthing trauma. Birthing trauma includes vacuum delivery, forceps delivery, and perineal tear. In addition, a history of chronic constipation and excessive straining with bowel movements are thought to play a role in rectocele. Multiple gynecological or rectal surgeries can also lead to weakening of the pelvic floor. Births that involve babies over nine pounds in weight, or rapid births can contribute to the development of rectocele.

A hysterectomy or other pelvic surgery can be a cause, as can chronic constipation and straining to pass bowel movements. It is more common in older women than in younger ones; estrogen which helps to keep the pelvic tissues elastic decreases after menopause.

Caused by malrotation of the bowels while returning to the abdomen during development. Some cases of omphalocele are believed to be due to an underlying genetic disorder, such as Edward's syndrome (trisomy 18) or Patau syndrome (trisomy 13).

Beckwith–Wiedemann syndrome is also associated with omphaloceles.

Treatment depends on the severity of the problem, and may include non-surgical methods such as changes in diet (increase in fiber and water intake), pelvic floor exercises such as Kegel exercises, use of stool softeners, hormone replacement therapy for post-menopausal women and insertion of a pessary into the vagina. A high fiber diet, consisting of 25-30 grams of fiber daily, as well as increased water intake (typically 6-8 glasses daily), help to avoid constipation and straining with bowel movements, and can relieve symptoms of rectocele.

Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. It often causes the splitting of both male and female genitalia (specifically, the penis and clitoris respectively), and the anus is occasionally sealed.

Cloacal exstrophy is a rare birth defect, present in 1/200,000 pregnancies and 1/400,000 live births.

It is caused by a defect of the ventral body wall—mesodermal migration is inhibited and folding fails.

A 2008 study found that over 85% of women having a vaginal birth sustain some form of perineal trauma, and 60-70% receive stitches. A retrospective study of 8,603 vaginal deliveries in 1994 found a third degree tear had been clinically diagnosed in only 50 women (0.6%). However, when the same authors used anal endosonography in a consecutive group of 202 deliveries, there was evidence of third degree tears in 35% of first-time mothers and 44% of mothers with previous children. These numbers are confirmed by other researchers in 1999.

A study by the Agency for Healthcare Research and Quality (AHRQ) found that in 2011, first- and second-degree perineal tear was the most common complicating condition for vaginal deliveries in the U.S. among women covered by either private insurance or Medicaid.

Second-degree perineal laceration rates were higher for women covered by private insurance than for women covered by Medicaid.