Congenital chloride diarrhea

Get in touch with RARE Concierge.

Contact RARE Concierge

A rare genetic intestinal disease characterized by persistent potentially life-threatening watery diarrhea with excessive levels of chloride in stools hypochloremia hyponatremia hypokalemia and metabolic alkalosis resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.

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 June 2024

Newly diagnosed with
Congenital chloride diarrhea?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.