Overview
Isolated neonatal sclerosing cholangitis (also sometimes called neonatal sclerosing cholangitis or NSC) is a very rare liver disease that affects newborns and young infants. It causes inflammation and scarring (fibrosis) of the bile ducts — the small tubes that carry bile from the liver to the intestines. When these ducts become scarred and narrowed, bile cannot flow properly. This buildup of bile damages the liver over time. The word 'isolated' means the condition affects the bile ducts on their own, without being part of a broader syndrome or other organ disease. Babies with this condition typically show signs of liver disease very early in life, often within the first few weeks or months. The most noticeable signs include yellowing of the skin and eyes (jaundice), pale or chalky stools, dark urine, and a swollen belly due to an enlarged liver or spleen. Because bile is not reaching the intestines properly, babies may also have trouble absorbing fats and fat-soluble vitamins, which can affect their growth and nutrition. Treatment is focused on managing symptoms, supporting nutrition, and protecting the liver for as long as possible. Some children eventually need a liver transplant if the liver damage becomes severe. Early diagnosis and close follow-up with a specialist team give the best chance of a good outcome. Research into the genetic causes of this condition is ongoing, and understanding the underlying cause in each child can help guide treatment decisions.
Key symptoms:
Yellowing of the skin and whites of the eyes (jaundice)Pale, chalky, or clay-colored stoolsDark yellow or brown urineSwollen or enlarged belly due to a large liver or spleenPoor weight gain or slow growthItchy skinFatigue and low energyEasy bruising or bleedingDifficulty absorbing fats and vitamins from foodFluid buildup in the belly (ascites) in advanced cases
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 Isolated neonatal sclerosing cholangitis.
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Specialists
View all specialists →No specialists are currently listed for Isolated neonatal sclerosing cholangitis.
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 Isolated neonatal sclerosing cholangitis.
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.Has genetic testing been done, and which genes were tested? What did the results mean for my child?,How quickly do you expect my child's liver disease to progress, and what signs should I watch for at home?,What vitamins and medications does my child need, and how do I give them correctly?,At what point would you recommend putting my child on the liver transplant waiting list?,Are there any clinical trials or research studies my child might be eligible for?,What support services — such as dietitians, social workers, or patient groups — are available to our family?,Should other family members, including future pregnancies, be tested for the genetic cause?
Common questions about Isolated neonatal sclerosing cholangitis
What is Isolated neonatal sclerosing cholangitis?
Isolated neonatal sclerosing cholangitis (also sometimes called neonatal sclerosing cholangitis or NSC) is a very rare liver disease that affects newborns and young infants. It causes inflammation and scarring (fibrosis) of the bile ducts — the small tubes that carry bile from the liver to the intestines. When these ducts become scarred and narrowed, bile cannot flow properly. This buildup of bile damages the liver over time. The word 'isolated' means the condition affects the bile ducts on their own, without being part of a broader syndrome or other organ disease. Babies with this condition
How is Isolated neonatal sclerosing cholangitis inherited?
Isolated neonatal sclerosing cholangitis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isolated neonatal sclerosing cholangitis typically begin?
Typical onset of Isolated neonatal sclerosing cholangitis is neonatal. Age of onset can vary across affected individuals.