| Persistent cloaca | |
|---|---|
| Other names | cloacal malformation |
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| Diagram of a female with persistent cloaca | |
| Specialty | Medical genetics |
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. [1]
Cloacas appear in a wide spectrum of variation in females born with the malformation. The severity of the condition depends on where the three tracts have joined together. [2] The single orifice, called a common channel, may occur varying in length from 1 to 10 cm. [3] [4] 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. [5] This type of malformation happens when the embryonic anorectal and urogenital channels fail to separate during the sixth and seventh weeks of gestational development. Cloacal malformations are rare; they only occur in approximately 1 in 50,000 live births. [2]
Diagnosis of a female with a cloaca should be suspected in a female born with an imperforate anus and small looking genitalia. The diagnosis can be made clinically with tests like ultrasound, X-rays, voiding cystourethrogram (VCUG) and cloacagram. MRI of the spine and pelvis and endoscopic examinations may also be performed. [6] 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. [7] [8]
Due to their complexity, cloacal malformations require multidisciplinary treatment from pediatric surgeons, urologists and gynecologists. Children diagnosed with this condition may also have anomalies in other organ systems and will likely require several different types of reconstructive surgeries. Depending on the severity of their condition, treatment may involve urinary, vaginal and colorectal reconstruction. [9]
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. [7]
Urinary incontinence (UI), also known as involuntary urination, is any uncontrolled leakage of urine. It is a common and distressing problem, which may have a large impact on quality of life. It has been identified as an important issue in geriatric health care. The term enuresis is often used to refer to urinary incontinence primarily in children, such as nocturnal enuresis. UI is an example of a stigmatized medical condition, which creates barriers to successful management and makes the problem worse. People may be too embarrassed to seek medical help, and attempt to self-manage the symptom in secrecy from others.
Fecal incontinence (FI), or in some forms, encopresis, is a lack of control over defecation, leading to involuntary loss of bowel contents, both liquid stool elements and mucus, or solid feces. When this loss includes flatus (gas), it is referred to as anal incontinence. FI is a sign or a symptom, not a diagnosis. Incontinence can result from different causes and might occur with either constipation or diarrhea. Continence is maintained by several interrelated factors, including the anal sampling mechanism, and incontinence usually results from a deficiency of multiple mechanisms. The most common causes are thought to be immediate or delayed damage from childbirth, complications from prior anorectal surgery, altered bowel habits. An estimated 2.2% of community-dwelling adults are affected. However, reported prevalence figures vary. A prevalence of 8.39% among non-institutionalized U.S adults between 2005 and 2010 has been reported, and among institutionalized elders figures come close to 50%.
Hirschsprung's disease is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung's disease are diagnosed in the first year of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location on the head of the penis. It is the second-most common birth defect of the male reproductive system, affecting about one of every 250 males at birth. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening is on or near the head of the penis (glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the shaft of the penis, near or within the scrotum. Shiny tissue that typically forms the urethra instead extends from the meatus to the tip of the glans; this tissue is called the urethral plate.
A rectal prolapse occurs when walls of the rectum have prolapsed to such a degree that they protrude out of the anus and are visible outside the body. However, most researchers agree that there are 3 to 5 different types of rectal prolapse, depending on whether the prolapsed section is visible externally, and whether the full or only partial thickness of the rectal wall is involved.
Intersex medical interventions (IMI), also known as intersex genital mutilations (IGM), are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for the purposes of making a person's appearance more typical and to reduce the likelihood of future problems. The history of intersex surgery has been characterized by controversy due to reports that surgery can compromise sexual function and sensation, and create lifelong health issues. The medical interventions can be for a variety of reasons, due to the enormous variety of the disorders of sex development. Some disorders, such as salt-wasting disorder, can be life-threatening if left untreated.
An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies. The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs. Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.
An umbilical hernia is a health condition where the abdominal wall behind the navel is damaged. It may cause the navel to bulge outwards—the bulge consisting of abdominal fat from the greater omentum or occasionally parts of the small intestine. The bulge can often be pressed back through the hole in the abdominal wall, and may "pop out" when coughing or otherwise acting to increase intra-abdominal pressure. Treatment is surgical, and surgery may be performed for cosmetic as well as health-related reasons.
Neurogenic bladder dysfunction, often called by the shortened term neurogenic bladder, refers to urinary bladder problems due to disease or injury of the central nervous system or peripheral nerves involved in the control of urination. There are multiple types of neurogenic bladder depending on the underlying cause and the symptoms. Symptoms include overactive bladder, urinary urgency, frequency, incontinence or difficulty passing urine. A range of diseases or conditions can cause neurogenic bladder including spinal cord injury, multiple sclerosis, stroke, brain injury, spina bifida, peripheral nerve damage, Parkinson's disease, or other neurodegenerative diseases. Neurogenic bladder can be diagnosed through a history and physical as well as imaging and more specialized testing. In addition to symptomatic treatment, treatment depends on the nature of the underlying disease and can be managed with behavioral changes, medications, surgeries, or other procedures. The symptoms of neurogenic bladder, especially incontinence, can severely degrade a person's quality of life.
Anorectal abscess is an abscess adjacent to the anus. Most cases of perianal abscesses are sporadic, though there are certain situations which elevate the risk for developing the disease, such as diabetes mellitus, Crohn's disease, chronic corticosteroid treatment and others. It arises as a complication of paraproctitis. Ischiorectal, inter- and intrasphincteric abscesses have been described.
Currarino syndrome is an inherited congenital disorder where either the sacrum is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum. It occurs in approximately 1 in 100,000 people.
The urorectal septum is an invagination of the cloaca. It divides it into a dorsal part and a ventral part. It invaginates from cranial to caudal, formed from the endodermal cloaca, and fuses with the cloacal membrane. Malformations can cause fistulas.
Solitary rectal ulcer syndrome or SRUS is a chronic, benign disorder of the rectal mucosa. It commonly occurs with varying degrees of rectal prolapse. The condition is thought to be caused by different factors, such as long term constipation, straining during defecation, and dyssynergic defecation. Treatment is by normalization of bowel habits, biofeedback, and other conservative measures. In more severe cases various surgical procedures may be indicated. The condition is relatively rare, affecting approximately 1 in 100,000 people per year. It affects mainly adults aged 30–50. Females are affected slightly more often than males. The disorder can be confused clinically with rectal cancer or other conditions such as inflammatory bowel disease, even when a biopsy is done.
Anismus or dyssynergic defecation is the failure of normal relaxation of pelvic floor muscles during attempted defecation. It can occur in both children and adults, and in both men and women. It can be caused by physical defects or it can occur for other reasons or unknown reasons. Anismus that has a behavioral cause could be viewed as having similarities with parcopresis, or psychogenic fecal retention.
Obstructed defecation syndrome is a major cause of functional constipation, of which it is considered a subtype. It is characterized by difficult and/or incomplete emptying of the rectum with or without an actual reduction in the number of bowel movements per week. Normal definitions of functional constipation include infrequent bowel movements and hard stools. In contrast, ODS may occur with frequent bowel movements and even with soft stools, and the colonic transit time may be normal, but delayed in the rectum and sigmoid colon.
Dyssynergia is any disturbance of muscular coordination, resulting in uncoordinated and abrupt movements. This is also an aspect of ataxia. It is typical for dyssynergic patients to split a movement into several smaller movements. Types of dyssynergia include Ramsay Hunt syndrome type 1, bladder sphincter dyssynergia, and anal sphincter dyssynergia.
In fecal incontinence (FI), surgery may be carried out if conservative measures alone are not sufficient to control symptoms. There are many surgical options described for FI, and they can be considered in 4 general groups.
An artificial urinary sphincter (AUS) is an implanted device to treat moderate to severe stress urinary incontinence, most commonly in men. The AUS is designed to supplement the function of the natural urinary sphincter that restricts urine flow out of the bladder.
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.
Caudal duplication, is a rare congenital disorder in which various structures of the caudal region, embryonic cloaca, and neural tube exhibit a spectrum of abnormalities such as duplication and malformations. The exact causes of the condition is unknown, though there are several theories implicating abnormal embryological development as a cause for the condition. Diagnosis is often made during prenatal development of the second trimester through anomaly scans or immediately after birth. However, rare cases of adulthood diagnosis has also been observed. Treatment is often required to correct such abnormalities according to the range of symptoms present, whilst treatment options vary from conservative expectant management to resection of caudal tissue to restore normal function or appearance. As a rare congenital disorder, the prevalence at birth is less than 1 per 100,000 with less than 100 cases reported worldwide.