hepatic fibrocystic diseases
The hepatic fibrocystic diseases (HTCD) are a heterogeneous group of severe monogenic conditions.
HTCD syndromes present in the neonatal and paediatric age with consistent developmental abnormalities mostly involving the liver, including the proliferation and dilatation of epithelial ducts with abnormal deposition of extracellular matrix.
Classification
autosomal recessive polycystic kidney disease (ARPKD)
juvenile nephronophthisis (NPHP)
Meckel syndrome (MKS)
Bardet-Biedl syndrome (BBS)
Jeune syndrome (Jeune asphyxiating thoracic dystrophy) (Jeune ATD)
Ellis-van Creveld syndrome (EVC)
Fraser-Jequier-Chen syndrome
Associations
polydactyly (11343330)
See also
hepatic fibrocystic disease (HFCD) (liver fibrocytsic disease)