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Diseases » Anorectal disorders » Glossary
 

Glossary for Anorectal disorders

  • Abdominal pain: A condition which is characterized by the sensation of pain that is located in the abdomen
  • Adenomatous Polyposis of the Colon, autosomal dominant: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The condition is inherited in an autosomal dominant manner and occurs in a familial pattern. Most patients have at least one parent with the condition.
  • Altered bowel habit: An altered bowel habit is any abnormal unusual bowel movement or change in the normal pattern of bowel movements in an individual.
  • Anal Cancer: Cancer (malignant) that develops in the tissues of the anus.
  • Anal conditions: Conditions that affect the anus
  • Anal fissure: Tear in the anal region.
  • Anal itching: Itching of the anal area
  • Anal sphincter dysplasia: A malformation of the anal canal.
  • Anal sphincter myopathy, internal: A rare disorder where abnormalities of the anal muscles results in severe intermittent anal pain. The pain occurs at intervals during the day and every hour during the night.
  • Ankyloblepharon filiforme -- imperforate anus: A rare genetic disorder characterized by a narrowed or absent anal opening as well as fused eyelids.
  • Anorectal Malformations: Any condition which is a malformation of the normal anatomical design of the anorectum
  • Anorectal abscess: A condition characterized by a collection of puss located in the anorectal area
  • Anorectal atresia: Congenital malformation where the anal or rectal opening is obstructed. The malformation is often associated with other abnormalities.
  • Anorectal stricture: A condition which is characterized by the formation of a stricture located in the anorectum
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Brodie pile: Inflammation of the mucous layer at the lower end of an anal fissure.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cataract -- intellectual deficit -- anal atresia -- urinary defects: A very rare syndrome characterized mainly by cataracts, mental retardation and genitourinary tract abnormalities and absent anal opening.
  • Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
  • Colorectal Cancer, Susceptibility to, 1: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 1 is linked to a defect on chromosome 9.
  • Colorectal Cancer, Susceptibility to, 10: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 10 is linked to a defect on chromosome 19q.
  • Colorectal Cancer, Susceptibility to, 11: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 11 is linked to a defect on chromosome 20p.
  • Colorectal Cancer, Susceptibility to, 2: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 2 is linked to a defect on chromosome 8q24.
  • Colorectal Cancer, Susceptibility to, 3: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 3 is linked to a defect on chromosome 16.
  • Colorectal Cancer, Susceptibility to, 4: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 4 is linked to a defect on chromosome 15.
  • Colorectal Cancer, Susceptibility to, 5: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 5 is linked to a defect on chromosome 10p14.
  • Colorectal Cancer, Susceptibility to, 6: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 6 is linked to a defect on chromosome 8q23.
  • Colorectal Cancer, Susceptibility to, 7: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 7 is linked to a defect on chromosome 11.
  • Colorectal Cancer, Susceptibility to, 8: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 8 is linked to a defect on chromosome 14q.
  • Colorectal Cancer, Susceptibility to, 9: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 9 is linked to a defect on chromosome 16q.
  • Colorectal Polyps: Polyp growths in the colon or rectum.
  • Colorectal adenomatous polyposis, dominant: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The condition is inherited in an autosomal dominant manner and occurs in a familial pattern. Most patients have at least one parent with the condition.
  • Colorectal adenomatous polyposis, recessive: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous.
  • Colorectal cancer: Cancer of the colon (bowel) or rectum.
  • Constipation: Difficult or dry bowel movements
  • Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb, urogenital and craniofacial abnormalities.
  • Craniosynostosis, anal anomalies, and porokeratosis: A very rare disorder characterized primarily by the premature fusion of skull bones (coronal sutures), anal anomalies and a skin disorder called porokeratosis.
  • Currarino triad: A rare birth malformation consisting of abnormalities in the anal, sacral and presacral areas.
  • Deafness -- nephritis -- anorectal malformation: A very rare syndrome characterized by kidney disease, deafness and malformations of the anus and rectum.
  • Digestive Diseases: Diseases that affect the digestive system
  • Diphallus -- rachischisis -- imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
  • Distal colorectal cancer: Approximately 75% of colorectal cancers are sporadic and develop in people with no specific risk factors. The remaining 25% of cases occur in people with significant risk factors.
  • FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
  • FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
  • FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
  • FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
  • FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
  • Familial Colorectal Cancer: An inherited disorder in which affected individuals have a higher-than-normal chance of developing colorectal cancer and certain other types of cancer, often before the age of 50.
  • Familial Intestinal Polyposis: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous.
  • Familial Multiple Polyposis: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous.
  • Familial adenomatous polyposis, autosomal dominant: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The condition is inherited in an autosomal dominant manner and occurs in a familial pattern. Most patients have at least one parent with the condition.
  • Familial polyposis: Rare genetic disease causing multiple colorectal polyps
  • Familial rectal pain: An inherited severe pain syndrome involving very short but severe episodes of pain in the eyes, rectum or under the jaw. Triggers for episodes include sudden falls, sexual encounters, eating, crying, yawning, vivid dreams and fights. Defecation is the main trigger in infants and younger children. The eye and jaw pain is more common in older children and adults. Patients vary with respect to the number of locations involved.
  • Fecal impaction: Impaction of hard stool in the bowel
  • Fecal incontinence: Leaking or poorly controlled bowel motions
  • Female pseudohermaphrodism -- anorectal anomalies: A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
  • Flatulence: Passing wind through the anus
  • Fukuda-Miyanomae-Nakata syndrome: A rare syndrome characterized mainly tooth, bone and nail abnormalities as well as anal and urethral anomalies.
  • Gastrointestinal bleeding: Internal bleeding in the digestive tract
  • Gonorrhea: Common sexually transmitted disease often without symptoms.
  • Granuloma inguinale: Granulomous disease spread sexually.
  • Hamartomatous colorectal cancer: The hamartomatous polyposis syndromes are a heterogeneous group of disorders that share an autosomal-dominant pattern of inheritance and are characterized by hamartomatous polyps of the gastrointestinal tract.
  • Hematochezia: is the passage of bright red, bloody stools from the rectum
  • Hemorrhoids: Swollen blood vessels around the anus.
  • Hereditary Polyposis Coli: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous.
  • Hereditary colorectal cancer: Individuals affected with hereditary colorectal cancer inherit a mutation in one of several genes involved in DNA mismatch repair, including MSH2, MLH1, and PMS2. ras gene mutations have been detected in the stool of patients with colorectal cancer and may in the future be useful in early diagnosis.
  • Hereditary nonpolyposis colon cancer: A rare disorder characterized by the inherited predisposition to develop colorectal cancer as well as cancers in other locations, particularly near the bowel. Even though sufferers face an increased risk of various cancers it does not mean that they will actually develop the cancer.
  • Hochenegg ulcer: A rare, firm type of rectal tumor which is ulcerated in the middle.
  • Hordnes-Engebretsen-Knudtson syndrome: A very rare syndrome characterized by an abnormal skull shape, mental retardation, abnormally placed anus and narrowed pulmonary valve
  • Imperforate anus: A congenital disorder where the anus is missing or located in the wrong position.
  • Incontinence: The loss of control of ones bowel and or bladder function
  • Infectious Diarrhea: Infectious digestive infections causing diarrhea.
  • Ivemark III: A very rare genetic disorder characterized by an absent or divided spleen, imperforate anus, neurological symptoms ambiguous genitalia and other anomalies.
  • Karandikar-Maria-Kamble syndrome: A very rare syndrome characterized mainly by cataracts, mental retardation, genitourinary tract abnormalities and absent anal opening.
  • Levator syndrome: A rare disorder where tenderness and spasms of a rectal muscle (levator ani) causes discomfort and pain in the rectal and tailbone area. The episodes of discomfort and pain can recur frequently and may persist for hours. Sitting can aggravate symptoms. The cause of the condition is unknown and although painful, it is harmless.
  • Lymphogranuloma venereum: Type of chlamydia (sexually transmitted disease)
  • Lynch Syndrome 1:
  • Lynch Syndromes:
  • Lynch syndrome I: A rare disorder characterized by the inherited predisposition to develop colorectal cancer which usually occurs at a younger age than non-inherited forms. Type I differs from Type II in that there is an increased risk of colorectal cancers but not necessarily other cancers.
  • Lynch syndrome II: A rare disorder characterized by the inherited predisposition to develop colorectal cancer in the colorectal which usually occurs at a younger age than non-inherited forms. Type II differs from type I in that there is an increased risk of cancers in various parts of the body as well as colorectal cancer.
  • Lynch syndrome type I: Lynch syndrome is a rare disorder.The estimated proportion of all Colorectal cancers that are caused by Lynch syndrome depends on how this syndrome is defined, with traditional definitions being based on family history and age of onset. It is also known as hereditary nonpolyposis colorectal cancer syndrome(HNPCC). The syndrome is classified as Type I in the absence of extracolonic cancers and Type II if these are present.
  • Lynch syndrome type II: Lynch syndrome is a rare disorder.The estimated proportion of all Colorectal cancers that are caused by Lynch syndrome depends on how this syndrome is defined, with traditional definitions being based on family history and age of onset. It is also known as hereditary nonpolyposis colorectal cancer syndrome(HNPCC). The syndrome is classified as Type I in the absence of extracolonic cancers and Type II if these are present.
  • MSI-H colorectal cancer: MSI sporadic colorectal cancers with a high level of MSI (MSI-H) form a well defined group with distinct clinicopathologic features characterized by an overall better long-term prognosis.
  • MSI-L colorectal cancer: Colorectal cancer is classified based on the microsatellite instability status and this is important for effective clinical management. MSI-L colorectal cancer is not clearly defined.
  • MSS colorectal cancer: Microsatellite analysis is commonly used initial screening tests for hereditary nonpolyposis colorectal cancer.
  • Mesodermal defects lower type: A very rare syndrome characterized mainly by defects of the lower trunk area such as the pelvic organs.
  • Nonpolyposis colorectal cancer, familial: A rare disorder characterized by the inherited predisposition to develop colorectal cancer. Even though sufferers face an increased risk of various cancers it does not mean that they will actually develop the cancer.
  • Oculo tricho anal syndrome: A very rare syndrome characterized mainly by anal, eye and hair abnormalities.
  • Omphalocele -- exstrophy -- imperforate anus: A very rare syndrome characterized mainly by the absence of an anal opening, spine defects and omphalocele (abdominal organ protruding from the belly button).
  • Paget's extramammary disease: A rare cancer characterized by a chronic rash that resembles eczema and usually occurs on the genital and anal areas.
  • Pallister-Hall Syndrome: A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
  • Pelvic conditions: Any medical condition affecting the pelvic region.
  • Perineal hemangioma -- external genitalia malformations -- lipomyelomeningocele -- vesicorenal abnormalities -- imperforate anus: A term used to describe the association of infantile perineal hemangiomas with any of the following: external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities and imperforate anus.
  • Perirectal abscess: A pus-filled cavity that develops in the anal opening. The inflammation can be caused by injury to the anal area which can lead to bacteria entering the anal skin. The injury may be related to such things as anal fissures, hemorrhoids.
  • Pinworm: Small, threadlike parasitic worms mainly in colon and rectum
  • Polyposis, Adenomatous Intestinal, autosomal dominant: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The condition is inherited in an autosomal dominant manner and occurs in a familial pattern. Most patients have at least one parent with the condition.
  • Proctalgia: Any type of rectal pain
  • Proctitis: A chronic inflammatory disease of the rectum which causes bloody diarrhea.
  • Proximal colorectal cancer: Approximately 75% of colorectal cancers are sporadic and develop in people with no specific risk factors. The remaining 25% of cases occur in people with significant risk factors.
  • Pruritus ani: common condition which causes itching and irritation around the anus
  • Pseudohermaphrodism -- anorectal anomalies: A very rare disorder characterized by ambiguous external genitals and anal and rectal anomalies.
  • Radius absent -- anogenital anomalies: A very rare syndrome characterized mainly by an absent radius (forearm bone) and anal and genital anomalies.
  • Rectal abscess: Abscess in the rectal area
  • Rectal bleeding: A condition which is characterized by bleeding from the rectum
  • Rectal cancer: A growth or excessive proliferation of cells in the rectum which is the final portion of the digestive system before the anus. The growth may be benign or malignant.
  • Rectal conditions: Any condition that affects the rectum
  • Rectal fistula:
  • Rectal prolapse: Protruding rectum through the anus
  • Rectocele: Rectal prolapse with protrusion into the vagina
  • Rectosigmoid neoplasm: A tumor that originates in the upper rectal area or sigmoid colon. The tumor may be benign or cancerous.
  • Renoanogenital syndrome: A rare genetic disorder characterized by kidney, anal and genital abnormalities.
  • Rudd-Klimek syndrome: A very rare syndrome characterized mainly by abnormal development of the tailbone with deformities of the urogenital area as well as other anomalies.
  • Sacral hemangiomas -- multiple congenital abnormalities: A very rare syndrome characterized by hemangiomas and other abnormalities involving the tailbone and anal area.
  • Sirenomelia: A rare birth defect where infants are born with one lower extremity represented by completely fused legs as well as a large range of possible abnormalities.
  • Spondylocostal dysostosis with anal atresia and urogenital anomalies: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
  • Sporadic colorectal cancer: Sporadic colon cancer occurs in people who have no (or very little) family history of the disease. Although colon cancer sometimes has a familial or hereditary component, it usually doesn't.The majority of colon cancer, about 75%, is sporadic.
  • Tenesmus: feeling of incomplete evacuation of bowel
  • Thong-Douglas-Ferrante syndrome: A very rare syndrome characterized mainly by short stature, deafness and a blood abnormality.
  • Thymic-Renal-Anal-Lung dysplasia: A rare syndrome characterized by abnormalities involving the lungs, anus, kidneys and thymus.
  • Toe syndactyly, telecanthus, and anogenital and renal malformations: A rare X-linked syndrome characterized by webbed toes, telecanthus and kidney, genital and anal malformations.
  • Townes-Brocks Syndrome: A rare condition characterized by anal, hand, foot and ear abnormalities.
  • Traveler's diarrhea: Various diarrheal conditions often caught on international travel.
  • Urorectal septum malformation sequence: A rare disorder characterized by fetal developmental problems involving the urorectal septum.
  • VACTERL association: A rare syndrome characterized by often severe deformities involving the limbs, kidneys, anus, heart, esophagus and spine.
  • VACTERL association with hydrocephaly, X-linked: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
  • VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
  • VACTERYL hydrocephaly: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
  • VATER association: An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia
  • Vaginal fistula: Fistula between vagina and another cavity
  • Weight loss: Loss of body weight.

 

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