Overview
Syndromic congenital sodium diarrhea (also sometimes called syndromic congenital secretory sodium diarrhea) is a very rare inherited condition that affects the gut and several other parts of the body. In this disease, the intestines cannot properly absorb sodium — a key salt that the body needs to stay balanced. Instead of being absorbed, sodium stays in the gut and pulls water with it, causing severe, watery diarrhea that begins at birth or even before birth (while the baby is still in the womb, it can cause a buildup of fluid called polyhydramnios). Because the diarrhea is so severe and starts so early, babies with this condition can quickly become dangerously dehydrated and lose important minerals like sodium and bicarbonate. This is a medical emergency in newborns. What makes this condition 'syndromic' is that the diarrhea comes along with other features that affect different parts of the body. These can include unusual facial features, problems with the eyes (such as widely spaced eyes or other structural differences), and abnormalities of the bowel itself, such as malrotation or choanal atresia (a blockage in the nasal passage). The specific extra features can vary from person to person. This condition is caused by changes (mutations) in the SPINT2 gene. There is no cure at this time, but treatment focuses on carefully replacing fluids and electrolytes — often through a tube or intravenous line — to keep the child safe and growing. Some children may need long-term nutritional support. Management requires a team of specialists working closely together.
Also known as:
Key symptoms:
Severe watery diarrhea starting at or shortly after birthDangerous loss of sodium and other salts from the bodyDehydration that can become life-threateningExcess fluid around the baby before birth (polyhydramnios)Unusual facial features such as widely spaced eyes or a broad foreheadEye abnormalities, such as differences in eye structure or spacingBowel abnormalities such as malrotation (intestines in the wrong position)Blocked nasal passages at birth (choanal atresia)Poor weight gain and difficulty growing (failure to thrive)Low levels of bicarbonate in the blood (metabolic acidosis)Bloating or swelling of the abdomen
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 Syndromic congenital sodium diarrhea.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Syndromic congenital sodium diarrhea at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Syndromic congenital sodium diarrhea.
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 Syndromic congenital sodium diarrhea.
Community
No community posts yet. Be the first to share your experience with Syndromic congenital sodium diarrhea.
Start the conversation →Latest news about Syndromic congenital sodium diarrhea
No recent news articles for Syndromic congenital sodium diarrhea.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the best way to monitor my child's sodium and fluid levels at home, and how often should we check blood tests?,Does my child need tube feeding or special formula, and for how long?,What signs of dehydration or electrolyte problems should send us straight to the emergency room?,Are there any structural problems in my child's bowel or other organs that need surgery, and when?,What is the chance that future children could also have this condition, and should other family members be tested?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of my child's care team, and how often should we see each one?
Common questions about Syndromic congenital sodium diarrhea
What is Syndromic congenital sodium diarrhea?
Syndromic congenital sodium diarrhea (also sometimes called syndromic congenital secretory sodium diarrhea) is a very rare inherited condition that affects the gut and several other parts of the body. In this disease, the intestines cannot properly absorb sodium — a key salt that the body needs to stay balanced. Instead of being absorbed, sodium stays in the gut and pulls water with it, causing severe, watery diarrhea that begins at birth or even before birth (while the baby is still in the womb, it can cause a buildup of fluid called polyhydramnios). Because the diarrhea is so severe and sta
How is Syndromic congenital sodium diarrhea inherited?
Syndromic congenital sodium diarrhea follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Syndromic congenital sodium diarrhea typically begin?
Typical onset of Syndromic congenital sodium diarrhea is neonatal. Age of onset can vary across affected individuals.