Living with Imperforate anus
A birth defect in which the opening of the anus is missing or blocked.
Understanding Imperforate anus
The anus may end in a pouch, be too narrow, or open into part of the urinary or reproductive system. Many forms occur with other birth defects, and it can be part of a syndrome with multiple birth defects.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- No first stool within 24 to 48 hours after birth
- No anal opening
- Anal opening in an unusual place
- Stool coming out of the vagina, penis base, scrotum, or urethra
- Swollen belly
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Fetal Health Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Fetal Health Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Fetal Health Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
The exact cause isn't fully understood. It is believed to be due to abnormal development of the rectum as the embryo forms in the womb.
Also known as: absent anus; anal atresia; anorectal stenosis; anus, imperforate; anus, imperforate, x-linked; aproctia
Patient organizations
- Fetal Health FoundationImperforate anus · United States
You are more than your diagnosis
Perspectives from people navigating life with Imperforate anus.
Explore research for Imperforate anus
Explore actively recruiting Imperforate anus studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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