The mutation is in downregulated-in-adenoma (DRA), a gene that encodes a membrane protein of intestinal cells.

A rare disease, CCD occurs in all parts of the world but is more common in some populations with genetic founder effects,[2] most notably in Finland.

Immediately after birth, it leads to dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and failure to thrive.

Early diagnosis and aggressive salt replacement therapy result in normal growth and development, and generally good outcomes.

[7] Observations leading to the characterization of the SLC26 family were based on research on rare human diseases.