Living with Congenital atresia of colon
A condition present from birth in which part of the colon is closed off, blocking the bowel in newborns.
Understanding Congenital atresia of colon
The blockage in the lower intestine shows up in newborns as a swollen belly and not passing the first stool (meconium). It can be seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Swollen belly (abdominal distention)
- Not passing the first stool (meconium)
- Colon closed off (colonic atresia)
- Narrowed first part of the small intestine (duodenal stenosis)
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: atresia of colon; atresia of the large intestine; colon atresia; colonic atresia; colonic atresia (disease); large intestinal atresia
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 atresia of colon.
Explore research for Congenital atresia of colon
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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