biliary atresia with splenic malformation syndrome
Findings
No curated finding names biliary atresia with splenic malformation syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.
Definition from the Mondo Disease Ontology (MONDO:0016577), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: biliary atresia with splenic malformation syndrome
- Also called
- BASM syndrome