Renal-hepatic-pancreatic dysplasia

Disease Export to PDF
Name:
Renal-hepatic-pancreatic dysplasia
Description:
Renal-hepatic-pancreatic dysplasia is 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 tendancy 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-dependent diabetes.
ORPHAcode:
294415
Synonyms:
Ivemark II syndrome
Renohepaticopancreatic dysplasia
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14