Living with Congenital esophageal diverticulum
A rare condition present from birth in which a small pouch forms in the wall of the esophagus.
Understanding Congenital esophageal diverticulum
It is most often in the upper back part of the esophagus but can occur anywhere along it. Many people have no symptoms. It occurs on its own and not as part of a syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these typical ones:
- Bad breath
- Chronic cough
- Food coming back up (regurgitation)
- Trouble swallowing (dysphagia)
- Chest pain or discomfort
- Breathing food into the lungs (aspiration pneumonia)
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
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Ask 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
Quick facts
GARD says changes in genes cause this condition, but doesn't list a specific gene or inheritance pattern.
Also known as: congenital diverticulum of esophagus; congenital esophageal pouch
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital esophageal diverticulum.
Explore research for Congenital esophageal diverticulum
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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