Overview
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is an extremely rare congenital condition in which a baby is born with an underdeveloped (hypoplastic) pancreas, a blocked or missing section of the intestine (intestinal atresia), and an underdeveloped gallbladder. Because these organs are not properly formed, the baby cannot digest food normally or absorb the nutrients needed for growth and survival. The pancreas normally produces enzymes to break down food and insulin to control blood sugar, so when it is too small or poorly developed, both digestion and blood sugar regulation are severely affected. Intestinal atresia means part of the bowel is closed off or absent, which blocks the passage of food through the digestive tract. The underdeveloped gallbladder further impairs fat digestion because bile cannot be stored and released properly. Symptoms typically appear immediately after birth or within the first days of life. Affected newborns may have vomiting, inability to feed, a swollen abdomen, and failure to pass stool. Because the pancreas is underdeveloped, the baby may also have low blood sugar and signs of poor nutrient absorption. Treatment is primarily surgical and supportive. Surgery is needed to correct the intestinal blockage, and the baby may require intravenous nutrition (called total parenteral nutrition or TPN) for an extended period. Pancreatic enzyme replacement therapy and careful blood sugar management are also important parts of care. Unfortunately, this syndrome carries a very serious prognosis, and many affected infants face life-threatening complications despite intensive medical treatment.
Key symptoms:
Underdeveloped pancreasBlocked or missing section of the intestineUnderdeveloped or small gallbladderVomiting shortly after birthInability to feed normallySwollen or distended abdomenFailure to pass stool (meconium) after birthLow blood sugar (hypoglycemia)Poor weight gain and failure to thriveDifficulty absorbing nutrients from foodFatty or abnormal stoolsDehydrationJaundice (yellowing of the skin)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome.
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
Travel Grants
No travel grants are currently matched to Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 intestine and pancreatic tissue does my baby have, and what does that mean for long-term feeding?,How long will my baby need intravenous nutrition, and what are the risks?,What surgeries will be needed, and what is the expected recovery?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,What signs of complications should I watch for at home?,Are there specialized centers with more experience treating this condition?,What support services are available for our family during this time?
Common questions about Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
What is Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome?
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is an extremely rare congenital condition in which a baby is born with an underdeveloped (hypoplastic) pancreas, a blocked or missing section of the intestine (intestinal atresia), and an underdeveloped gallbladder. Because these organs are not properly formed, the baby cannot digest food normally or absorb the nutrients needed for growth and survival. The pancreas normally produces enzymes to break down food and insulin to control blood sugar, so when it is too small or poorly developed, both digestion and blood sugar re
How is Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome inherited?
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome typically begin?
Typical onset of Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is neonatal. Age of onset can vary across affected individuals.