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ICD9 = | ICDO = | OMIM = 301800 | OMIM_mult = | MedlinePlus = 001147 | eMedicineSubj = ped | eMedicineTopic = 1171| eMedicine_mult = | MeshID = D001006 |An imperforate anus or anal atresia is a birth defect in which the rectum is malformed. Its cause is unknown.
Diagnosis 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 defect the child was born with and whether or not there are any associated malformations. It is important to determine the presence of any associated defects during the newborn period in order to treat them early and 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 life.
Features There are several forms of imperforate anus:
Treatment Imperforate anus usually requires immediate surgery to open a passage for faeces. Depending on the severity of the imperforate, it is either treated with a perineal anoplasty or a colostomy: a surgical procedure that involves connecting a part of the colon onto the anterior abdominal wall, leaving the patient with an opening on the abdomen called a stoma. This opening is formed from the end of the large intestine drawn out through the incision and sutured to the skin. After a colostomy, feces leave the patient's body through the stoma, and collect in a pouch attached to the patient's abdomen which is changed when necessary.
Prognosis 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 inital 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 machanism can be established by joining the appendix to the skin (Malone stoma), however, establishing more normal anatomy is the priority.
Epidemiology Imperforate anus has an estimated incidence of 1 in 5000 births.Texas Pediatric Associates. "Imperforate anus." Retrieved 13 July, 2005.MedLine Plus. "Imperforate anus." Retrieved 13 July, 2005. It affects boys and girls with similar frequency. 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.
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