Overview
Juvenile polyposis of infancy (also called JPI or infantile juvenile polyposis) is a very rare and serious condition where many small growths called polyps form throughout the digestive tract — including the stomach, small intestine, and large intestine — in babies and very young children. Unlike the more common form of juvenile polyposis that appears in older children or adults, this form starts in the first months of life and tends to be much more severe. The polyps can bleed, block the gut, and prevent the body from absorbing the nutrients it needs to grow. Babies with this condition often have severe diarrhea, blood in their stools, and fail to gain weight normally. They may also lose large amounts of protein through the gut, leading to swelling and serious nutritional problems. In some cases, the condition is linked to changes in a gene called PTEN or SMAD4, and it can occur alongside other abnormalities in the body. Treatment focuses on managing symptoms, providing nutrition support, and removing polyps through endoscopy or surgery. Because the disease is so widespread and starts so early, it is very difficult to treat and can be life-threatening. Families need close support from a team of specialists to manage this complex condition.
Also known as:
Key symptoms:
Severe, ongoing diarrheaBlood in the stool (red or dark tarry stools)Failure to gain weight or grow normallySwelling of the bellySwelling of the legs or body due to low protein levelsVomitingAnemia (low red blood cell count causing paleness and tiredness)Loss of protein through the gut (protein-losing enteropathy)Rectal prolapse (part of the bowel pushing out through the bottom)Malnutrition and vitamin deficienciesIntestinal obstruction or blockage
Clinical phenotype terms (43)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Juvenile polyposis of infancy.
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Rare Disease Specialist
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 Juvenile polyposis of infancy.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should my child have, and what do the results mean for our family?,How often will my child need endoscopy or colonoscopy to check on the polyps?,What nutritional support does my child need, and how will we manage feeding at home?,What warning signs should make me bring my child to the emergency room right away?,Are there any clinical trials or research studies my child might be eligible for?,What is the long-term plan for managing this condition as my child grows?,Should other family members be tested for related genetic conditions?
Common questions about Juvenile polyposis of infancy
What is Juvenile polyposis of infancy?
Juvenile polyposis of infancy (also called JPI or infantile juvenile polyposis) is a very rare and serious condition where many small growths called polyps form throughout the digestive tract — including the stomach, small intestine, and large intestine — in babies and very young children. Unlike the more common form of juvenile polyposis that appears in older children or adults, this form starts in the first months of life and tends to be much more severe. The polyps can bleed, block the gut, and prevent the body from absorbing the nutrients it needs to grow. Babies with this condition often
At what age does Juvenile polyposis of infancy typically begin?
Typical onset of Juvenile polyposis of infancy is infantile. Age of onset can vary across affected individuals.
Which specialists treat Juvenile polyposis of infancy?
2 specialists and care centers treating Juvenile polyposis of infancy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.