Overview
Primary short bowel syndrome is a rare congenital condition where a baby is born with an abnormally short small intestine. Unlike acquired short bowel syndrome, which happens after surgical removal of parts of the intestine, primary short bowel syndrome is present from birth and is caused by problems during fetal development. The small intestine is the main part of the digestive system responsible for absorbing nutrients from food. When it is too short, the body cannot absorb enough water, vitamins, minerals, and calories to support normal growth and health. Babies with this condition typically show signs very early in life, often within the first days or weeks after birth. Common symptoms include severe diarrhea, poor weight gain, failure to thrive, dehydration, and malnutrition. Because the intestine cannot do its job properly, affected infants usually need specialized nutrition delivered directly into the bloodstream, called parenteral nutrition (PN or TPN), to survive and grow. Treatment focuses on providing adequate nutrition while trying to help the remaining intestine adapt and absorb as much as possible. Some patients may eventually tolerate more oral or tube feeding as their intestine adapts over time, but many require long-term or lifelong parenteral nutrition. In severe cases, intestinal transplantation may be considered. Newer medications like teduglutide (Gattex) have been developed to help the intestine absorb more nutrients, though their use in congenital forms requires careful specialist guidance. Management requires a multidisciplinary team including gastroenterologists, surgeons, dietitians, and other specialists.
Key symptoms:
Severe diarrheaPoor weight gain or failure to thriveDehydrationMalnutritionBloating or abdominal distensionVomitingDifficulty tolerating feedingsVitamin and mineral deficienciesFatigue and low energyDelayed growth and developmentFrequent loose or watery stoolsDependence on intravenous nutrition
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsUniversity of Texas Southwestern Medical Center — NA
GATTEX: FDA approved
Treatment of adult patients with short bowel syndrome (SBS) who are dependent on parenteral support
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableGATTEX
Treatment of adult patients with short bowel syndrome (SBS) who are dependent on parenteral support
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Primary short bowel syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How much functional small intestine does my child have, and is the ileocecal valve intact?,What is the likelihood that my child's intestine will adapt enough to reduce or stop parenteral nutrition?,Should we pursue genetic testing to identify an underlying cause?,Is my child a candidate for intestinal rehabilitation, lengthening surgery, or transplantation?,What are the risks of long-term parenteral nutrition, and how will we monitor for complications like liver disease?,Would teduglutide or other medications be appropriate for my child?,What support services are available for our family, including nutritional counseling and psychological support?
Common questions about Primary short bowel syndrome
What is Primary short bowel syndrome?
Primary short bowel syndrome is a rare congenital condition where a baby is born with an abnormally short small intestine. Unlike acquired short bowel syndrome, which happens after surgical removal of parts of the intestine, primary short bowel syndrome is present from birth and is caused by problems during fetal development. The small intestine is the main part of the digestive system responsible for absorbing nutrients from food. When it is too short, the body cannot absorb enough water, vitamins, minerals, and calories to support normal growth and health. Babies with this condition typical
At what age does Primary short bowel syndrome typically begin?
Typical onset of Primary short bowel syndrome is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Primary short bowel syndrome?
Yes — 1 recruiting clinical trial is currently listed for Primary short bowel syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Primary short bowel syndrome?
1 specialists and care centers treating Primary short bowel syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Primary short bowel syndrome?
1 patient support program are currently tracked on UniteRare for Primary short bowel syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.