Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanIsolated biliary atresia
ORPHA:30391Morphological anomaly
Also called Isolated atresia of bile ducts · Non-syndromic biliary atresia
What it is
A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Multigenic/multifactorial
- Classified as
- Morphological anomaly
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
13- Acholic stools
- Atretic gallbladder
- Conjugated hyperbilirubinemia
- Dark yellow urine
- Decreased liver function
- Elevated circulating alkaline phosphatase concentration
- Elevated circulating hepatic transaminase concentration
- Elevated gamma-glutamyltransferase level
- Fat malabsorption
- Hepatomegaly
- Prolonged neonatal jaundice
- Prolonged prothrombin time
- Severe failure to thrive
Sometimes5–29%
11- Abnormal facial shape
- Bile duct proliferation
- Cirrhosis
- Hypopituitarism
- Hypothyroidism
- Ophthalmoplegia
- Periportal fibrosis
- Pruritus
and 3 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.