Renal-hepatic-pancreatic dysplasia

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Renal-hepatic-pancreatic dysplasia

Synonyms: Ivemark II syndrome | Renohepaticopancreatic dysplasia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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