renal-hepatic-pancreatic dysplasia
A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.
MONDO:0015214
obsolete syndromic visceral malformation (obsolete MONDO:0015214)
excluded_subClassOf
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
Ivemark II syndrome
exact
Renohepaticopancreatic dysplasia
exact