Imperforate anus

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Imperforate anus
Synonyms	Anorectal malformation
Pronounce	N/A
Specialty	N/A
Symptoms	Absence of a normal anal opening, abnormal location of the anal opening, stool passing through other openings
Complications	Urinary tract infection, bowel obstruction, fecal incontinence
Onset	Congenital
Duration	Lifelong (with varying degrees of management)
Types	N/A
Causes	Congenital malformation
Risks	Genetic syndromes, maternal diabetes, environmental factors
Diagnosis	Physical examination, imaging studies
Differential diagnosis	Hirschsprung's disease, anal stenosis
Prevention	N/A
Treatment	Surgical intervention, colostomy
Medication	N/A
Prognosis	Varies depending on severity and associated anomalies
Frequency	1 in 5,000 live births
Deaths	N/A

Imperforate anus is a birth defect that affects about one in every 5,000 newborns, in which the rectum is malformed. The rectum is the end of the digestive system, where stool exits the body. In babies with imperforate anus, the rectum does not connect to the anus.

Causes

The exact cause of imperforate anus is unknown. It is thought to occur early in fetal development. Some studies suggest that it may be related to genetic factors, but more research is needed to confirm this.

Symptoms

The main symptom of imperforate anus is the absence of a normal rectal opening. Other symptoms can include:

• Abdominal swelling
• Failure to pass stool within the first 48 hours of life
• Unusual stooling patterns, such as passing stool from the urethra in boys or the vagina in girls

Diagnosis

Imperforate anus is usually diagnosed shortly after birth during a physical examination. Additional tests may be needed to determine the severity of the condition and to check for associated anomalies. These can include:

• Ultrasound
• X-ray
• MRI

Treatment

Treatment for imperforate anus usually involves surgery to create a new rectal opening. The type of surgery depends on the severity of the condition and the presence of associated anomalies. Some children may need additional surgeries or treatments as they grow.

Prognosis

With early diagnosis and treatment, most children with imperforate anus can lead normal lives. However, they may have ongoing issues with bowel control and may need long-term follow-up care.

See also

• Birth defects
• Digestive system
• Rectum
• Anus

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