An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency dystrophic myopathy hepatic steatosis severe psychomotor delay megalocornea failure to thrive chronic constipation and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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