Overview
Congenital chloride diarrhea (CCD), also known as congenital chloridorrhea or familial chloride diarrhea, is a rare inherited condition that affects how the intestines absorb and move chloride — a type of salt — in the body. Normally, the gut carefully controls the balance of chloride and other minerals. In CCD, a faulty protein in the intestinal lining causes chloride to be lost in large amounts through watery diarrhea, starting even before birth. This leads to a dangerous imbalance of salts and fluids in the body. Babies with CCD are often born with a swollen belly because of fluid buildup in the intestines before birth (a condition called polyhydramnios in the mother during pregnancy). After birth, they have ongoing, watery diarrhea that is unusually high in chloride. This causes the blood to become too alkaline (a condition called metabolic alkalosis) and leads to low levels of chloride and potassium in the blood. Without treatment, babies can become severely dehydrated and very ill. The main treatment is lifelong oral chloride replacement — giving extra salt (sodium chloride and potassium chloride) by mouth to make up for what is lost in the stool. With careful management, many people with CCD can live relatively normal lives, though they must take supplements every day and have regular monitoring. There is no cure, but early diagnosis and consistent treatment greatly improve outcomes and reduce the risk of serious complications like kidney damage.
Key symptoms:
Watery diarrhea present from birth or even before birthSwollen or distended belly in newbornsDehydrationLow chloride levels in the bloodLow potassium levels in the bloodBlood that is too alkaline (metabolic alkalosis)Failure to gain weight or grow properly (failure to thrive)Fatigue and low energyFrequent urination or kidney problems over timeHigh chloride content in the stoolBloating and abdominal discomfort
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital chloride diarrhea.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital chloride diarrhea.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How much sodium chloride and potassium chloride does my child need each day, and how do we adjust the dose as they grow?,How often should we check blood and urine tests, and what levels are we aiming for?,What are the warning signs that my child needs emergency care, and what should I do?,Are there any long-term kidney complications we should watch for, and how do we prevent them?,What should we do differently during illness, hot weather, or sports activities?,Is genetic counseling available for other family members who might be carriers?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Congenital chloride diarrhea
What is Congenital chloride diarrhea?
Congenital chloride diarrhea (CCD), also known as congenital chloridorrhea or familial chloride diarrhea, is a rare inherited condition that affects how the intestines absorb and move chloride — a type of salt — in the body. Normally, the gut carefully controls the balance of chloride and other minerals. In CCD, a faulty protein in the intestinal lining causes chloride to be lost in large amounts through watery diarrhea, starting even before birth. This leads to a dangerous imbalance of salts and fluids in the body. Babies with CCD are often born with a swollen belly because of fluid buildup
How is Congenital chloride diarrhea inherited?
Congenital chloride diarrhea follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital chloride diarrhea typically begin?
Typical onset of Congenital chloride diarrhea is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital chloride diarrhea?
1 specialists and care centers treating Congenital chloride diarrhea are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.