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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".
Atresia is a condition in which an orifice or passage in the body is closed or absent.
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.
Fraser syndrome is an autosomal recessive congenital disorder, identified by several developmental anomalies. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.
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.
Townes–Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. The condition was first identified in 1972. by Philip L. Townes, who was at the time a human geneticists and Professor of Pediatrics, and Eric Brocks, who was at the time a medical student, both at the University of Rochester.
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.
Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is "an accumulation of blood within the vagina". It is often caused by the combination of menstruation with an imperforate hymen. It is sometimes seen in Robinow syndrome, uterus didelphys, or other vaginal anomalies.
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.
FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. First reported by American geneticists John M. Opitz and Elisabeth G. Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia, and a characteristic facial appearance including macrocephaly.
Diphallia, penile duplication (PD), diphallic terata, or diphallasparatus is an extremely rare developmental abnormality in which a male is born with two penises. The first reported case was by Johannes Jacob Wecker in 1609. Its occurrence is 1 in 5.5 million boys in the United States.
Anorectal manometry (ARM) is a medical test used to measure pressures in the anus and rectum and to assess their function. The test is performed by inserting a catheter, that contains a probe embedded with pressure sensors, through the anus and into the rectum. Patients may be asked to perform certain maneuvers, such as coughing or attempting to defecate, to assess for pressure changes. Anorectal manometry is a safe and low risk procedure.
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.
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a variety of organ systems. Because of the rarity of the disease in addition to the variations in the disease, the specific genes that cause this disease are unknown. This disease is also known as:
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.
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.
A bifid nose is an uncommon congenital malformation which is characterized by the presence of a cleft between the two nostrils of the nose. It is the result of a disturbance during embryological nose development.
CDAGS syndrome, also known as CAP syndrome, is a very rare syndrome characterized by craniosynostosis and other cranial defects, delayed closure of the fontanelles, deafness, anal anomalies, genital malformations and skin eruption. CDAGS is caused by heterozygotic compound variants in the RNU12 gene, which disrupts the function of the minor spliceosome. Only 14 cases are known worldwide. It is inherited in an autosomal recessive fashion.
References
- ↑ Cho, Sechin; Moore, Shawn P.; Fangman, Tony (1 May 2001). "One Hundred Three Consecutive Patients With Anorectal Malformations and Their Associated Anomalies". Archives of Pediatrics & Adolescent Medicine. 155 (5): 587–91. doi: 10.1001/archpedi.155.5.587 . ISSN 1072-4710. PMID 11343503.
- ↑ Texas Pediatric Associates. "Imperforate anus." Retrieved 13 July 2005.
- ↑ MedLine Plus. "Imperforate anus." Retrieved 13 July 2005.
- ↑ Adotey JM, Jebbin NJ (2004). "Anorectal disorders requiring surgical treatment in the University of Port Harcourt Teaching Hospital, Port Harcourt". Nigerian Journal of Medicine. 13 (4): 350–4. PMID 15523860.
