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Living with Rectal duplication

A rare condition present from birth in which a mucus-filled pouch forms next to the rectum.

Understanding Rectal duplication

Rectal duplication is a rare bowel malformation present from birth, an egg-like, mucus-filled cyst-like mass that forms near the rectum.

The mass is lined with intestinal tissue and smooth muscle. Most are found behind the rectum, where they connect to or touch it. It usually shows up in childhood.

Signs & symptoms

Symptoms vary from person to person. GARD describes these features:

  • Repeated urinary tract infections
  • Stomach and bowel infections (gastroenteritis)
  • Bowel blockage
  • Rectal bleeding
  • Mucus or pus draining from the anus
  • Infection around the anus

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include digestive system specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
Expert care
Ask about multidisciplinary care centers for rare conditions
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 rare disease patient organizations for support
  • 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
Bring these questions to your next doctor visit
What tests will show the exact size and location of the duplication?
What surgery is recommended?
Should other body systems, like the urinary tract, be checked?

Quick facts

GARD says gene changes cause this condition. It doesn't name a gene or describe inheritance yet.

GeneticGastrointestinal

Also known as: congenital duplication of rectum

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · Rectal duplicationGARD ID 20122 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Rectal duplication.

Explore the Rectal duplication blog

Explore research for Rectal duplication

Explore actively recruiting Rectal duplication studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Rectal duplication with HealthSpark. Share your city to explore research near you.

  • 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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I can help you find recruiting Rectal duplication studies. Enter a ZIP code, address or city below and I'll look within 50 miles.

Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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