Congenital chloride diarrhea syndrome

Also known as: Congenital chloridorrhea

Chloride-rich watery diarrhea from birth.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Pediatric GI disease
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, neonatal onset
Gene(s) involved: SLC26A3

Etiology & mechanism

Defective ileal and colonic Cl-/HCO3- exchange.

Gene(s) involved (1)

SLC26A3

Symptoms & signs (5)

dehydrationhypochloremiametabolic alkalosispolyhydramnioswatery diarrhea

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.