Overview
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is a very rare condition present from birth that affects several parts of the body at the same time. It is sometimes called pancreatic agenesis with congenital heart defects. The pancreas — the organ that helps digest food and controls blood sugar — is either very small or did not develop properly before birth. Because of this, the body cannot make enough insulin, which leads to diabetes starting in the newborn period or early infancy. This type of diabetes is different from the more common Type 1 or Type 2 diabetes and is sometimes called neonatal diabetes. Along with the pancreas problems, babies born with this syndrome also have heart defects that are present at birth. These heart problems can range from mild to serious and may need surgery or other treatments. Some children may also have problems with digesting food because the pancreas is not making enough digestive enzymes. Managing this condition requires a team of specialists. Treatment focuses on controlling blood sugar with insulin, supporting digestion with enzyme supplements, and treating the heart defect. There is no cure, but with careful medical management, many children can be supported through the most critical early stages of life.
Key symptoms:
Very small or absent pancreas from birthDiabetes starting in the newborn period (neonatal diabetes)High blood sugar levels in a newbornHeart defect present at birthPoor weight gain or failure to thriveDifficulty digesting foodFatty or greasy stools due to poor fat digestionLow birth weightFrequent infections or illness in infancyAbdominal discomfort or bloating
Clinical phenotype terms (40)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pancreatic hypoplasia-diabetes-congenital heart disease syndrome.
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Specialists
View all specialists →No specialists are currently listed for Pancreatic hypoplasia-diabetes-congenital heart disease 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 Pancreatic hypoplasia-diabetes-congenital heart disease 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
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.Which genes have been tested, and should we do whole exome sequencing if no cause has been found yet?,What type of insulin therapy is best for my child at this age, and should we consider an insulin pump?,How serious is my child's heart defect, and will it need surgery?,What signs of complications should prompt an emergency room visit?,Are there any clinical trials or research studies we should know about?,What long-term complications should we watch for as my child grows older?,Are other family members at risk, and should they be tested?
Common questions about Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
What is Pancreatic hypoplasia-diabetes-congenital heart disease syndrome?
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is a very rare condition present from birth that affects several parts of the body at the same time. It is sometimes called pancreatic agenesis with congenital heart defects. The pancreas — the organ that helps digest food and controls blood sugar — is either very small or did not develop properly before birth. Because of this, the body cannot make enough insulin, which leads to diabetes starting in the newborn period or early infancy. This type of diabetes is different from the more common Type 1 or Type 2 diabetes and is someti
At what age does Pancreatic hypoplasia-diabetes-congenital heart disease syndrome typically begin?
Typical onset of Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is neonatal. Age of onset can vary across affected individuals.