congenital hepatorenal fibrocystic syndromes
The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions. HRFC syndromes present in the neonatal and paediatric age with consistent developmental abnormalities mostly involving the liver and kidney, including the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix.
Classification
autosomal recessive polycystic kidney disease (ARPKD)
juvenile nephronophthisis (NPHP)
Meckel-Gruber syndrome (MKS)
Bardet-Biedl syndrome (BBS)
Jeune asphyxiating thoracic dystrophy (JATD).
Ellis-van Creveld syndrome (EvC)
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