Syndromic congenital sodium diarrhea
Synonyms: Syndromic congenital tufting enteropathy
A rare genetic syndromic intestinal disorder characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium hyponatremia and metabolic acidosis and generally uni- or bilateral choanal atresia and corneal erosions. Additional congenital malformations may include intestinal atresia and hexadactyly.
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://www.orphadata.org. Data version April 2024
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Syndromic congenital sodium diarrhea?
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