Living with Congenital short bowel syndrome
A rare condition in which babies are born with a short small intestine that cannot absorb food well.
Understanding Congenital short bowel syndrome
The short bowel makes it hard to absorb nutrients. This leads to ongoing diarrhea, vomiting, and poor weight gain (failure to thrive). The cause is unknown. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped intestine
- Twisted gut position (intestinal malrotation)
- Short stature
- Sparse hair
- Loss of fat tissue in one area (lipoatrophy)
- Thinking and learning problems
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.
- 4Connect with expert centers
Association of Gastrointestinal Motility Disorders may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Association of Gastrointestinal Motility Disorders
- 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 Association of Gastrointestinal Motility Disorders and other patient organizations
- 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 the cause is unknown, though it also lists changes in genes. Inheritance may be autosomal recessive (a changed copy from each parent) or X-linked.
Also known as: csbs
Patient organizations
- Association of Gastrointestinal Motility DisordersCongenital short bowel syndrome · United States
- AGA GI Patient CenterCongenital short bowel syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital short bowel syndrome.
Explore research for Congenital short bowel syndrome
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- 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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