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)

If a colostomy is not performed immediately after birth, patients with rectovestibular fistulae may present later in life with complications including severe constipation and megacolon (abnormal dilation of the colon), requiring colostomy or further surgery.

Symptoms include:

- Straining during defecation

- Mucous rectal discharge

- Rectal bleeding

- Sensation of incomplete evacuation (tenesmus)

- constipation, or more rarely diarrhea

- fecal incontinence (rarely)

There are several forms of imperforate anus and anorectal malformations. The new classification is in relation of the type of associated fistula.

The classical Wingspread classification was in low and high anomalies:

- A low lesion, in which the colon remains close to the skin. In this case, there may be a stenosis (narrowing) of the anus, or the anus may be missing altogether, with the rectum ending in a blind pouch.

- A high lesion, in which the colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.

- A persistent cloaca (from the term cloaca, an analogous orifice in reptiles and amphibians), in which the rectum, vagina and urinary tract are joined into a single channel.

Imperforate anus is usually present along with other birth defects—spinal problems, heart problems, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies are among the possibilities.

Signs and symptoms include:

- history of a protruding mass.

- degrees of fecal incontinence, (50-80% of patients) which may simply present as a mucous discharge.

- constipation (20-50% of patients) also described as tenesmus (a sensation of incomplete evacuation of stool) and obstructed defecation.

- a feeling of bearing down.

- rectal bleeding

- diarrhea and erratic bowel habits.

Initially, the mass may protrude through the anal canal only during defecation and straining, and spontaneously return afterwards. Later, the mass may have to be pushed back in following defecation. This may progress to a chronically prolapsed and severe condition, defined as spontaneous prolapse that is difficult to keep inside, and occurs with walking, prolonged standing, coughing or sneezing (Valsalva maneuvers). A chronically prolapsed rectal tissue may undergo pathological changes such as thickening, ulceration and bleeding.

If the prolapse becomes trapped externally outside the anal sphincters, it may become strangulated and there is a risk of perforation. This may require an urgent surgical operation if the prolapse cannot be manually reduced. Applying granulated sugar on the exposed rectal tissue can reduce the edema (swelling) and facilitate this.

Imperforate anus is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association:

- V – Vertebral anomalies

- A – "Anal atresia"

- C – Cardiovascular anomalies

- T – Tracheoesophageal fistula

- E – Esophageal atresia

- R – Renal (kidney) and/or radial anomalies

- L – Limb defects

Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome (partial trisomy or tetrasomy of a maternally derived number 22 chromosome), Baller-Gerold syndrome, Currarino syndrome, caudal regression syndrome, FG syndrome, Johanson-Blizzard syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, short rib-polydactyly syndrome type 1, Townes-Brocks syndrome, 13q deletion syndrome, urorectal septum malformation sequence, and the OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).

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.

Anal stricture or anal stenosis is a narrowing of the anal canal. It can be caused by a number of surgical procedures including: hemorrhoid removal and following anorectal wart treatment.

An anal fissure, fissure in Ano or rectal fissure is a break or tear in the skin of the anal canal. Anal fissures may be noticed by bright red anal bleeding on toilet paper and undergarments, or sometimes in the toilet. If acute they may cause pain after defecation, but with chronic fissures, pain intensity is often less. Anal fissures usually extend from the anal opening and are usually located posteriorly in the midline, probably because of the relatively unsupported nature and poor perfusion of the anal wall in that location. Fissure depth may be superficial or sometimes down to the underlying sphincter muscle.

The causes of umbilical hernia are congenital and acquired malformation, but an apparent third cause is really a cause of a different type, a paraumbilical hernia.

Intestinal atresias are often discovered before birth: either during a routine sonogram which shows a dilated intestinal segment due to the blockage, or by the development of polyhydramnios (the buildup of too much amniotic fluid in the uterus). These abnormalities are indications that the fetus may have a bowel obstruction which a more detailed ultrasound study can confirm.

Some fetuses with bowel obstruction have abnormal chromosomes. An amniocentesis is recommended because it can determine not only the sex of the baby, but whether or not there is a problem with the chromosomes.

Importantly, an umbilical hernia must be distinguished from a paraumbilical hernia, which occurs in adults and involves a defect in the midline near to the umbilicus, and from omphalocele.

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.

Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the intestine. This defect can either occur in the small or large intestine.

A persistent cloaca is a symptom of a complex anorectal congenital disorder, in which the rectum, vagina, and urinary tract meet and fuse, creating a cloaca, a single common channel.

Most anal fissures are caused by stretching of the anal mucosa beyond its capability.

Superficial or shallow anal fissures look much like a paper cut, and may be hard to detect upon visual inspection, they will generally self-heal within a couple of weeks. However, some anal fissures become chronic and deep and will not heal. The most common cause of non-healing is spasming of the internal anal sphincter muscle which results in impaired blood supply to the anal mucosa. The result is a non-healing ulcer, which may become infected by fecal bacteria.

In adults, fissures may be caused by constipation, the passing of large, hard stools, or by prolonged diarrhea. In older adults, anal fissures may be caused by decreased blood flow to the area. When fissures are found laterally, tuberculosis, occult abscesses, leukemic infiltrates, carcinoma, acquired immunodeficiency syndrome (AIDS) or inflammatory bowel disease should be considered as causes. Some sexually transmitted infections can promote the breakdown of tissue resulting in a fissure. Examples of sexually transmitted infections that may affect the anorectal area are syphilis, herpes, chlamydia and human papilloma virus.

Other common causes of anal fissures include:

- childbirth trauma in women

- anal sex

- Crohn's disease

- ulcerative colitis

- poor toileting in young children.

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.

Symptoms include:

- Straining to pass fecal material

- Tenesmus (a feeling of incomplete evacuation)

- Feeling of anorectal obstruction/blockage

- Digital maneuvers needed to aid defecation

- Difficulty initiating and completing bowel movements

There is no globally accepted definition, but fecal incontinence is generally defined as the recurrent inability to voluntarily control the passage of bowel contents through the anal canal and expel it at a socially acceptable location and time, occurring in individuals over the age of four. "Social continence" has been given various precise definitions for the purposes of research, however generally it refers to symptoms being controlled to an extent that is acceptable to the individual in question, with no significant effect on their life. There is no consensus about the best way to classify FI, and several methods are used.

Symptoms can be directly or indirectly related to the loss of bowel control. The direct (primary) symptom is a lack of control over bowel contents which tends to worsen without treatment. Indirect (secondary) symptoms, which are the result of leakage, include pruritus ani (an intense itching sensation from the anus), perianal dermatitis (irritation and inflammation of the skin around the anus), and urinary tract infections. Due to embarrassment, people may only mention secondary symptoms rather than acknowledge incontinence. Any major underlying cause will produce additional signs and symptoms, such as protrusion of mucosa in external rectal prolapse. Symptoms of fecal leakage (FL) are similar, and may occur after defecation. There may be loss of small amounts of brown fluid and staining of the underwear.

The rectum needs to be of a sufficient volume to store stool until defecation. The rectal walls need to be "compliant" i.e. able to distend to an extent to accommodate stool. Rectal sensation is required to detect the presence, nature and amount of rectal contents. The rectum must also be able to evacuate its contents fully. There must also be efficient co-ordination of rectal sensation and relaxation of the anal canal. If the sensory nerves are damaged, detection of stool in the rectum is dulled or absent, and the person will not feel the need to defecate until too late. Rectal hyposensitivity may manifest as constipation, FI, or both. Rectal hyposensitivty was reported to be present in 10% of people with FI. Pudendal neuropathy is one cause of rectal hyposensitivity, and may lead to fecal loading/impaction, megarectum and overflow FI. Normal evacuation of rectal contents is 90-100%. If there is incomplete evacuation during defecation, residual stool will be left in the rectum and threaten continence once defecation is finished. This is a feature of people with soiling secondary to obstructed defecation. Obstructed defecation is often due to anismus (paradoxical contraction or relaxation failure of the puborectalis). Whilst anismus is largely a functional disorder, organic pathologic lesions may mechanically interfere with rectal evacuation. Other causes of incomplete evacuation include non-emptying defects like a rectocele. Straining to defecate pushes stool into the rectocele, which acts like a diverticulum and causes stool sequestration. Once the voluntary attempt to defecate, albeit dysfunctional, is finished, the voluntary muscles relax, and residual rectal contents are then able to descend into the anal canal and cause leaking.

Symptoms and signs in the newborn can be sepsis, abdominal mass, and respiratory distress. Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia. Symptoms for vaginal atresia include cyclical abdominal pain, the inability to start having menstrual cycles, a small pouch or dimple where a vaginal opening should be, and pelvic mass when the upper vagina becomes filled with menstrual blood. Signs and symptoms of vaginal atresia or vaginal agenesis can often go unnoticed in females until they reach the age of menstruation. Women may also experience some form of abdominal pain or cramping.

Anismus is classified as a functional defecation disorder. It is also a type of rectal outlet obstruction (a functional outlet obstruction). Where anismus causes constipation, it is an example of functional constipation. Some authors describe an "obstructed defecation syndrome", of which anismus is a cause.

The Rome classification subdivides functional defecation disorders into 3 types, however the symptoms the patient experiences are identical.

- Type I: paradoxical contraction of the pelvic floor muscles during attempted defecation

- Type II: inadequate propulsive forces during attempted defecation (inadequate defecatory propulsion)

- Type III: impaired relaxation with adequate propulsion

It can be seen from the above classification that many of the terms that have been used interchangeably with anismus are inappropriately specific and neglect the concept of impaired propulsion. Similarly, some of the definitions that have been offered are also too restrictive.

A fistula is an abnormal connection between two hollow spaces (technically, two epithelialized surfaces), such as blood vessels, intestines, or other hollow organs. Fistulas are usually caused by injury or surgery, but they can also result from an infection or inflammation. Fistulas are generally a disease condition, but they may be surgically created for therapeutic reasons.

In botany, the term is most common in its adjectival forms, where it is used in binomial names to refer to species that are distinguished by hollow or tubular structures. Monarda fistulosa, for example, has tubular flowers; Eutrochium fistulosum has a tubular stem; and Allium fistulosum has hollow or tubular leaves.

Various types of fistulas include:

Although most fistulas are in forms of a tube, some can also have multiple branches.

There are many different types of rectal discharge, but the most common presentation of a discharge is passage of mucus or pus wrapped around an otherwise normal bowel movement.

Rectal discharge has many causes, and may present with other symptoms:

- Staining of undergarments

- Constant feeling of dampness around anus

- Frequent urge to open bowels, but passage of only small amounts of mucus or pus-like liquid rather than normal feces

- Rectal pain

- Rectal malodor, when the discharge is foul-smelling, e.g. associated with certain infections

- Pruritus ani

- Rectal bleeding

- Perianal erythema, swelling and tenderness