Isolated neonatal sclerosing cholangitis is a rare genetic biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice acholic stools hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis ductular proliferation hepatocellular metallothionein deposits and intralobular bile-pigment accumulations. Some patients may also have renal disease.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Isolated neonatal sclerosing cholangitis?
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Advocacy Organizations
Biliary Atresia and Liver Care Africa
Biliary Atresia and Liver Care Africa (BALCA) exists to raise awareness, support families, and advocate for better care for children and individuals living with biliary atresia and other liver diseases across East Africa, giving hope, information, and a strong support system while improving access to treatment and aftercare.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.