The pathophysiology of the condition results from neuronal plasticity associated with bladder afferents and motor neurons innervating the external urethral sphincter. People with this condition generally experience daytime and night time wetting, urinary retention, and often have a history of urinary tract and bladder infections. Constipation and encopresis are often associated with this condition.

Abnormal descent of the perineum may be asymptomatic, but otherwise the following may feature:

- perineodynia (perineal pain)

- Colo-proctological symptoms, e.g. obstructed defecation, dyschesia (constipation), or degrees of fecal incontinence

- gynaecological symptoms, e.g. cystocele (prolapse of the bladder into the vagina) and rectocele (prolapse of the rectum into the vagina)

- lower urinary tract symptoms, e.g. dysuria (painful urination), dyspareunia (pain during sexual intercourse), urinary incontinence & urgency

Other researchers concluded that abnormal perineal descent did not correlate with constipation or perineal pain, and there are also conflicting reports of the correlation of fecal incontinence with this condition.

Bladder sphincter dyssynergia (also known as detrusor sphincter dysynergia (DSD) (the ICS standard terminology agreed 1998) and neurogenic detrusor overactivity (NDO)) is a consequence of a neurological pathology such as spinal injury or multiple sclerosis. which disrupts central nervous system regulation of the micturition (urination) reflex resulting in dyscoordination of the detrusor muscles of the bladder and the male or female external urethral sphincter muscles. In normal lower urinary tract function, these two separate muscle structures act in synergistic coordination. But in this neurogenic disorder, the urethral sphincter muscle, instead of relaxing completely during voiding, dyssynergically contracts causing the flow to be interrupted and the bladder pressure to rise.

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

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.

The condition mainly occurs in women, and it is thought by some to be one of the main defects encountered problem in perineology.

FI affects virtually all aspects of peoples' lives, greatly diminishing physical and mental health, and affect personal, social and professional life. Emotional effects may include stress, fearfulness, anxiety, exhaustion, fear of public humiliation, feeling dirty, poor body-image, reduced desire for sex, anger, humiliation, depression, isolation, secrecy, frustration and embarrassment. Some people may need to be in control of life outside of FI as means of compensation. The physical symptoms such as skin soreness, pain and odor may also affect quality of life. Physical activity such as shopping or exercise is often affected. Travel may be affected, requiring careful planning. Working is also affected for most. Relationships, social activities and self-image likewise often suffer. Symptoms may worsen over time.

Anorectal anomalies and spinal cord defects may be a cause in children. These are usually picked up and operated upon during early life, but continence is often imperfect thereafter.

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.

Symptoms include:

- Straining during defecation

- Mucous rectal discharge

- Rectal bleeding

- Sensation of incomplete evacuation (tenesmus)

- constipation, or more rarely diarrhea

- fecal incontinence (rarely)

Fecal incontinence to gas, liquid, solid stool, or mucus in the presence of obstructed defecation symptoms may indicate occult rectal prolapse (i.e. rectal intussusception), internal/external anal sphincter dysfunction, or descending perineum syndrome.

The main symptoms of achalasia are dysphagia (difficulty in swallowing), regurgitation of undigested food, chest pain behind the sternum, and weight loss. Dysphagia tends to become progressively worse over time and to involve both fluids and solids. Some people may also experience coughing when lying in a horizontal position.

The chest pain experienced, also known as cardiospasm and non-cardiac chest pain can often be mistaken for a heart attack. It can be extremely painful in some sufferers. Food and liquid, including saliva, are retained in the esophagus and may be inhaled into the lungs (aspiration).

Obstructed defecation, is "difficulty in evacuation or emptying the rectum [which] may occur even with frequent visits to the toilet and even with passing soft motions". The conditions that can create the symptom are sometimes grouped together as defecation disorders. The symptom tenesmus is a closely related topic.

Another source defines evacuatory dysfunction as "a constellation of symptoms such as prolonged repeated straining at bowel movements, sensation of incomplete evacuation, and the need for digital manipulation".

Some describe an "obstructed defecation syndrome", defining it loosely as "difficulty in evacuation, which may or may not be associated with constipation"

Others inappropriately equate obstructed defecation with anismus. Although anismus is a type of obstructed defecation, obstructed defecation has many other possible causes other than anismus.

Functional disorders of the gallbladder, bile duct and pancreas have been defined and classified by the Rome criteria for functional gastrointestinal disorders. The criteria outline three variants of functional disorders of the gallbladder, bile duct and pancreas, termed "functional gallbladder disorder", "functional biliary sphincter of Oddi disorder" and "functional pancreatic sphincter of Oddi disorder". All of the following criteria need to be met for as part of the definition of a functional disorder of the gallbladder:

- the pain must be located in the upper part of the abdomen and/or the right upper quadrant of the abdomen

- episodes of pain must last at least 30 minutes

- the symptoms must be recurrent, and occur at differing intervals

- the pain must incrementally increase to a "steady level"

- the pain must be severe enough the patient's daily activities are affected, or that the patient must attend the emergency department

- the pain must not be relieved by any of bowel movements, change in posture, or antacids; and,

- other structural disorders that could explain the symptoms must be excluded.

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)

Individuals are classified as having a functional gallbladder disorder if the above criteria are met, if the gallbladder is present, and if the testing of liver enzymes, conjugated bilirubin, and pancreatic enzymes (amylase and lipase) are normal.

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.

Achalasia (; "" + "-chalasia" "no relaxation") is a failure of smooth muscle fibers to relax, which can cause a sphincter to remain closed and fail to open when needed. Without a modifier, "achalasia" usually refers to achalasia of the esophagus, which is also called esophageal achalasia, achalasia cardiae, cardiospasm, and esophageal aperistalsis. Achalasia can happen at various points along the gastrointestinal tract; achalasia of the rectum, for instance, may occur in Hirschsprung's disease.

Esophageal achalasia is an esophageal motility disorder involving the smooth muscle layer of the esophagus and the lower esophageal sphincter (LES). It is characterized by incomplete LES relaxation, increased LES tone, and lack of peristalsis of the esophagus (inability of smooth muscle to move food down the esophagus) in the absence of other explanations like cancer or fibrosis.

Achalasia is characterized by difficulty in swallowing, regurgitation, and sometimes chest pain. Diagnosis is reached with esophageal manometry and barium swallow radiographic studies. Various treatments are available, although none cures the condition. Certain medications or Botox may be used in some cases, but more permanent relief is brought by esophageal dilatation and surgical cleaving of the muscle (Heller myotomy).

The most common form is primary achalasia, which has no known underlying cause. It is due to the failure of distal esophageal inhibitory neurons. However, a small proportion occurs secondary to other conditions, such as esophageal cancer or Chagas disease (an infectious disease common in South America). Achalasia affects about one person in 100,000 per year. There is no gender predominance for the occurrence of disease.

Chronic idiopathic constipation is similar to constipation-predominant irritable bowel syndrome (IBS-C); however, people with CIC do not have other symptoms of IBS, such as abdominal pain. Diagnosing CIC can be difficult as other syndromes must be ruled out as there is no physiological cause for CIC. Doctors will typically look for other symptoms, such as blood in stool, weight loss, low blood count, or other symptoms.

To be considered functional constipation, symptoms must be present at least a fourth of the time.

Possible causes are:

- Anismus

- Descending perineum syndrome

- Other inability or unwillingness to control the external anal sphincter, which normally is under voluntary control

- A poor diet

- An unwillingness to defecate

- Nervous reactions, including prolonged and/or chronic stress and anxiety, that close the internal anal sphincter, a muscle that is not under voluntary control

- Deeper psychosomatic disorders which sometimes affect digestion and the absorption of water in the colon

There is also possibility of presentation with other comorbid symptoms such as headache, especially in children.

Functional constipation, known as chronic idiopathic constipation (CIC), is constipation that does not have a physical (anatomical) or physiological (hormonal or other body chemistry) cause. It may have a neurological, psychological or psychosomatic cause. A person with functional constipation may be healthy, yet has difficulty defecating.

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.

Symptoms of cuffitis mimic those of pouchitis. In addition, patients with cuffitis often present with small volume bloody bowel movements. Often, cuffitis can produce the appearance of bright red blood on tissue.

Proctalgia fugax (a variant of levator ani syndrome) is a severe, episodic pain in the regions of the rectum and anus. It can be caused by cramp of the levator ani muscle, particularly in the pubococcygeal part.

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

Itchiness, a burning sensation, pus discharge, blood, and swelling in around the rectum and anus, diarrhea.