Syndromic congenital sodium diarrhea

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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 Data version December 2023

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