(Q42.2) Congenital absence, atresia and stenosis of anus with fistula

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132 235 in individuals diagnosis congenital absence, atresia and stenosis of anus with fistula confirmed
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1 964 deaths with diagnosis congenital absence, atresia and stenosis of anus with fistula
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2% mortality rate associated with the disease congenital absence, atresia and stenosis of anus with fistula

Diagnosis congenital absence, atresia and stenosis of anus with fistula is diagnosed Men are 18.58% more likely than Women

78 405

Men receive the diagnosis congenital absence, atresia and stenosis of anus with fistula

892 (1.1 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
53 830

Women receive the diagnosis congenital absence, atresia and stenosis of anus with fistula

1 072 (2.0 %)

Died from this diagnosis.

Risk Group for the Disease congenital absence, atresia and stenosis of anus with fistula - Men and Women aged 0

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In Men diagnosis is most often set at age 0-24, 30-34, 45-49, 65-69
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Less common in men the disease occurs at Age 25-29, 35-44, 50-64, 70-95+Less common in women the disease occurs at Age 20-29, 35-69, 75-95+
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In Women diagnosis is most often set at age 0-19, 30-34, 70-74

Disease Features congenital absence, atresia and stenosis of anus with fistula

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Absence or low individual and public risk
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Congenital absence, atresia and stenosis of anus with fistula - what does this mean

Congenital absence, atresia and stenosis of anus with fistula is a rare, congenital disorder caused by abnormal development of the rectum and anus during fetal development. it is characterized by the absence of the rectum, atresia (narrowing) of the anus, and a fistula (abnormal connection) between the rectum and the skin. this condition is often associated with other congenital malformations and can lead to serious complications if not treated properly.

What happens during the disease - congenital absence, atresia and stenosis of anus with fistula

Congenital absence, atresia and stenosis of anus with fistula is a rare disorder that is caused by a complex combination of genetic and environmental factors. it is thought to be caused by either a disruption in the normal development of the anal canal or a failure of the anal sphincter muscles to form properly in utero. this can lead to an abnormal opening in the perineum, which can then lead to an abnormal connection between the rectum and the skin, known as a fistula. in addition, the absence or malformation of the anal sphincter can lead to difficulty controlling the release of stool and flatulence, as well as constipation.

Clinical Pattern

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How does a doctor diagnose

  • Physical examination
  • X-ray
  • Ultrasound
  • Colonoscopy
  • CT scan
  • MRI
  • Endoscopy
  • Anal manometry
  • Anorectal ultrasound
Additions:
  • Lab tests
  • Genetic testing

Treatment and Medical Assistance

Main goal of the treatment: To improve the quality of life of the patient, reduce the risk of infection, and reduce the symptoms associated with the condition.
  • Administer antibiotics to reduce the risk of infection
  • Perform surgery to repair the fistula
  • Perform a colostomy to bypass the affected area
  • Administer pain medication to reduce discomfort
  • Provide nutritional support to maintain a healthy weight
  • Perform regular follow-up visits to monitor the condition
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15 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Congenital absence, atresia and stenosis of anus with fistula - Prevention

The best way to prevent congenital absence, atresia and stenosis of anus with fistula is to ensure that pregnant women receive adequate nutrition and prenatal care. this includes regular check-ups and screenings to ensure the health of both mother and baby. additionally, it is important to reduce the risk of infections by practicing good hygiene and avoiding exposure to environmental toxins.