Syndromic congenital sodium diarrhea
ORPHA:563708· ICD-10 K59.8
Definition
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.
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal