Overview
Primary desmosis coli is a very rare condition that affects the large intestine (colon). The word 'desmosis' refers to problems with the connective tissue fibers — called collagen — that help hold the walls of the colon together and keep it working properly. When these fibers are abnormal or missing, the colon cannot move food waste through the body the way it should. This leads to serious problems with bowel function from a very early age. People with this condition often experience severe, long-lasting constipation that does not respond well to normal treatments like laxatives or dietary changes. The colon may become stretched and enlarged over time, a condition sometimes called megacolon. In some cases, the bowel can stop moving waste altogether, which is a medical emergency. The condition is sometimes referred to by its ICD-10 classification under congenital malformations of the intestine. Because this is an extremely rare disease, treatment options are limited and mostly focused on managing symptoms. Surgery to remove the affected part of the colon may be needed in severe cases. Ongoing care from a specialist team is important to help patients maintain the best possible quality of life. Research into this condition is still in very early stages, and much remains unknown about its causes and best treatments.
Also known as:
Key symptoms:
Severe, long-lasting constipation that does not improve with usual treatmentsBloating and a swollen, distended bellyEnlarged colon (megacolon)Difficulty passing stool or no bowel movements at allAbdominal pain and crampingNausea and vomitingPoor feeding or poor appetite, especially in infantsFailure to thrive or slow weight gain in babiesBowel obstruction (blockage in the intestine)
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Primary desmosis coli.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Primary desmosis coli at this time.
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Specialists
View all specialists →No specialists are currently listed for Primary desmosis coli.
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 Primary desmosis coli.
Community
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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 tests do I need to confirm this diagnosis, and how long will they take?,Is surgery likely in my case, and what would that involve?,What bowel management routine do you recommend, and how do I know if it is working?,Are there any clinical trials or research studies I could join?,Should I see a clinical geneticist to find out if there is a genetic cause?,What warning signs should make me go to the emergency room right away?,Are there any patient support groups or specialists who have experience with this specific condition?
Common questions about Primary desmosis coli
What is Primary desmosis coli?
Primary desmosis coli is a very rare condition that affects the large intestine (colon). The word 'desmosis' refers to problems with the connective tissue fibers — called collagen — that help hold the walls of the colon together and keep it working properly. When these fibers are abnormal or missing, the colon cannot move food waste through the body the way it should. This leads to serious problems with bowel function from a very early age. People with this condition often experience severe, long-lasting constipation that does not respond well to normal treatments like laxatives or dietary ch
At what age does Primary desmosis coli typically begin?
Typical onset of Primary desmosis coli is neonatal. Age of onset can vary across affected individuals.