Imperforate anus - Anorectal malformations | |
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Other names | Anorectal malformations |
An X-ray showing imperforate anus | |
Specialty | Medical genetics |
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. [1] 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. [2] Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.[ clarification needed ] [1] [3]
There are other forms of anorectal malformations though imperforate anus is most common. Other variants include cloacal malformation, rectal atresia, rectal stenosis, and anterior ectopic anus. [4] [5] This form is more commonly seen in females and presents with constipation. [6]
There are several forms of imperforate anus and anorectal malformations. The new classification is in relation of the type of associated fistula. [7]
The Wingspread classification was in low and high anomalies:[ citation needed ]
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, collectively being called the VACTERL association. [8]
Imperforate anus is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association.[ citation needed ]
Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome (partial trisomy or tetrasomy of a maternally derived chromosome 22), 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).[ citation needed ]
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. Determining the presence of any associated defects during the newborn period in order to treat them early may 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.[ citation needed ]
Sonography can be used to determine the type of imperforate anus. [9]
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 [10] 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.[ citation needed ]
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.[ citation needed ]
Imperforate anus has an estimated incidence of 1 in 5,000 births. [11] [12] It affects boys and girls with similar frequency. [13] 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. [14]
7th-century Byzantine physician Paulus Aegineta described a surgical treatment for imperforate anus for the first time. [15] 10th-century Persian physician Haly Abbas was the first to highlight preserving the sphincter muscles throughout the surgery and the prevention of strictures with a stent. [15] He has reported the use of wine for wound care in this surgery. Some reports of children surviving this surgery are available from the early medieval Islamic era. [16]
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day.
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.
Anorectal anomalies are congenital malformations of the anus and rectum. One anal anomaly, imperforate anus has an estimated incidence of 1 in 5000 births. It affects boys and girls with similar frequency.
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.
Colorectal surgery is a field in medicine dealing with disorders of the rectum, anus, and colon. The field is also known as proctology, but this term is now used infrequently within medicine and is most often employed to identify practices relating to the anus and rectum in particular. The word proctology is derived from the Greek words πρωκτός proktos, meaning "anus" or "hindparts", and -λογία -logia, meaning "science" or "study".
Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.
The VACTERL association refers to a recognized group of birth defects which tend to co-occur. This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
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.
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.
Bowel management is the process which a person with a bowel disability uses to manage fecal incontinence or constipation. People who have a medical condition which impairs control of their defecation use bowel management techniques to choose a predictable time and place to evacuate. A simple bowel management technique might include diet control and establishing a toilet routine. As a more involved practice a person might use an enema to relieve themselves. Without bowel management, the person might either suffer from the feeling of not getting relief, or they might soil themselves.
In humans, the anus is the external opening of the rectum located inside the intergluteal cleft. Two sphincters control the exit of feces from the body during an act of defecation, which is the primary function of the anus. These are the internal anal sphincter and the external anal sphincter, which are circular muscles that normally maintain constriction of the orifice and which relax as required by normal physiological functioning. The inner sphincter is involuntary and the outer is voluntary. Above the anus is the perineum, which is also located beneath the vulva or scrotum.
Rectal discharge is intermittent or continuous expression of liquid from the anus. Normal rectal mucus is needed for proper excretion of waste. Otherwise, this is closely related to types of fecal incontinence but the term rectal discharge does not necessarily imply degrees of incontinence. Types of fecal incontinence that produce a liquid leakage could be thought of as a type of rectal discharge.
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.
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.
Vaginal anomalies are abnormal structures that are formed during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina.
Orvar Swenson was a Swedish-born American pediatric surgeon. He discovered the cause of Hirschsprung's disease and in 1948, with Alexander Bill, performed the first pull-through operation in a child with megacolon, which then became a treatment for the disease.
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.
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