A rare syndromic genetic respiratory disease characterized by cataracts otitis media intestinal malabsorption chronic respiratory infections and failure to thrive. Recurrent pneumonia and progressive azotemia leading to end-stage renal disease and early death are additionally observed. There have been no further descriptions in the literature since 1992.
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 September 2023.
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