Hepatic fibrosis-renal cysts-intellectual disability syndrome

Hepatic fibrosis-renal cysts-intellectual disability syndrome (also known as Crawfurd syndrome) is an extremely rare genetic disorder characterized by the combination of congenital hepatic fibrosis, renal cystic disease, and intellectual disability. This condition affects multiple organ systems, primarily the liver, kidneys, and central nervous system. Congenital hepatic fibrosis can lead to portal hypertension and its complications, including enlarged spleen (splenomegaly) and esophageal varices. The renal component involves the development of cysts in the kidneys, which may progressively impair kidney function. Intellectual disability is a consistent feature and can range from mild to severe, affecting cognitive development and adaptive functioning. The syndrome was first described by Crawfurd and colleagues. Additional clinical features that have been reported in some patients include facial dysmorphism and growth retardation. The condition typically manifests in childhood, when hepatic and renal abnormalities become clinically apparent alongside developmental delays. Diagnosis is based on clinical findings, imaging studies of the liver and kidneys, liver biopsy demonstrating congenital hepatic fibrosis, and assessment of cognitive function. There is currently no specific curative treatment for this syndrome. Management is supportive and multidisciplinary, focusing on monitoring and treating complications of hepatic fibrosis (such as portal hypertension), preserving renal function, and providing educational and developmental support for intellectual disability. Regular follow-up with hepatology, nephrology, and developmental specialists is recommended.

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