Caroli syndrome

Also known as: Congenital hepatic fibrosis with cystic bile ducts

Segmental biliary dilation with congenital hepatic fibrosis.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Hepatology
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, childhood onset
Gene(s) involved: PKHD1

Etiology & mechanism

Ductal plate malformation from ciliary fibrocystin deficiency.

Gene(s) involved (1)

PKHD1

Symptoms & signs (6)

abdominal paincholestasishepatomegalyportal hypertensionrecurrent cholangitisrenal cysts

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.