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Related to anal atresia: hydrocephalus, Tracheoesophageal fistula, VATER syndrome, sirenomelia, VACTERL
The anus is either not present or it is in the wrong place.
There are basically two kinds of anal atresia. In boys with high anal atresia, there may be a channel (fistula) connecting the large intestine to either the urethra (which delivers urine from the bladder) or the bladder itself. In girls, the channel may connect with the vagina. Sixty percent of children with high anal atresia have other defects, including problems with the esophagus, urinary tract, and bones. In low anal atresia, the channel may open in front of the circular mass of muscles that constrict to close the anal opening (anal sphincter) or, in boys, below the scrotum. Occasionally, the intestine ends just under the skin. It is estimated that overall abnormalities of the anus and rectum occur in about one in every 5,000 births and are slightly more common among boys. A mother who has one child with these kind of conditions has a 1% chance of having another child who suffers from this ailment.
Causes and symptoms
Anal atresia is a defect in the development of the fetus. The cause is unknown, but genetics seem to play a minor role.
Usually a physician can make an obvious visual diagnosis of anal atesia right after birth. Occasionally, however, anal atresia is missed until the baby is fed and signs of intestinal obstruction appear. At the end of the first or second day, the abdomen swells and there is vomiting of fecal material. To determine the type of anal atresia and the exact position, x rays will be taken which include injecting opaque dye into the opening. Magnetic resonance imaging (MRI) or computed tomography scans (CT), as well as ultrasound, are the imaging techniques used to determine the type and size of the anal atresia. Ultrasound uses sound waves, CT scans pass x rays through the body at different angles, and an MRI uses a magnetic field and radio waves.
Surgery is the only treatment for anal atresia. For high anal atresia, immediately after the diagnosis is made, a surgical incision is made in the large intestine to make a temporary opening (colostomy) in the abdomen where waste is excreted. Several months later, the intestine is moved into the ring of muscle (sphincter) that is part of the anus and a hole is made in the skin. The colostomy is closed several weeks later. In low anal atresia, immediately after diagnosis, a hole is made in the skin to open the area where the anus should be. If the channel is in the wrong place, the intestine is moved into the correct position sometime during the child's first year. After surgery, the pediatric surgeon uses an instrument to dilate or widen the rectum and teaches the parents how to do this daily at home to prevent scar tissue from contracting.
With high anal atresia, many children have problems controlling bowel function. Most also become constipated. With low anal atresia, children generally have good bowel control, but they may still become constipated.
There is no known way to prevent anal atresia.
Anus — The canal at the end of the large intestine through which waste is excreted to the outside of the body.
Bowel obstruction — Anything that prevents waste from moving normally to the anal opening.
Colostomy — An operation where the large intestine is diverted through an opening in the abdomen and waste is excreted.
Feces — Bodily waste material that normally passes through the anus.
Fistula — An abnormal channel that connects two organs or connects an organ to the skin.
Paidas, Charles N., and Alberto Pena. "Rectum and Anus." In Surgery of Infants and Children. Philadelphia: Lippincott-Raven, 1997.
congenital absence or closure of a normal body opening or tubular structure; see also obstruction. adj., adj atret´ic.
anal atresia (atresia a´ni) imperforate anus.
1. congenital absence of the aortic orifice.
2. absence or closure of the aortic orifice, a rare congenital anomaly in which the left ventricle is hypoplastic, so that oxygenated blood passes from the left into the right atrium through a septal defect, and the mixed venous and arterial blood passes from the pulmonary artery to the aorta by way of a patent ductus arteriosus.
aural atresia absence of closure of the auditory canal.
biliary atresia congenital obliteration or hypoplasia of one or more components of the bile ducts, resulting in persistent jaundice and liver damage.
choanal atresia blockage of the posterior nares. When the blockage is bilateral in a newborn, it produces acute respiratory distress because neonates are nose-breathers. Diagnosis is confirmed if a catheter cannot be passed through the nares. Until surgery is done to relieve the obstruction, insertion of an airway may be necessary.
esophageal atresia congenital lack of continuity of the esophagus, commonly accompanied by tracheoesophageal fistula, and characterized by accumulations of mucus in the nasopharynx, gagging, vomiting when fed, cyanosis, and dyspnea. Treatment should begin with suction of the upper esophageal pouch, followed by surgical repair by esophageal anastomosis and division of the fistula as soon as the infant's general condition permits.
follicular atresia (atresia folli´culi) the normal death of the ovarian follicle when unfertilized.
laryngeal atresia congenital lack of the normal opening into the larynx.
mitral atresia congenital obliteration of the mitral orifice; it is associated with hypoplastic left heart syndrome and transposition of great vessels.
prepyloric atresia congenital membranous obstruction of the gastric outlet, characterized by vomiting of gastric contents only. Called also pyloric atresia.
pulmonary atresia congenital severe narrowing or obstruction of the pulmonary orifice, with cardiomegaly, reduced pulmonary vascularity, and right ventricular atrophy. It is usually associated with tetralogy of fallot, transposition of great vessels, or other cardiovascular anomalies.
pyloric atresia prepyloric atresia.
tricuspid atresia absence of the tricuspid orifice, circulation being made possible by an atrial septal defect.
urethral atresia imperforation of the urethra.
a·nal a·tre·si·a, atresia ani
congenital absence of an anal opening due to the persistence of epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal.