Overview
Intractable diarrhea-choanal atresia-eye anomalies syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its three main features: severe, hard-to-treat (intractable) diarrhea, choanal atresia (a blockage of the nasal passages at the back of the nose), and various eye abnormalities. Babies born with this condition typically have life-threatening watery diarrhea that begins in the newborn period and does not respond well to standard treatments. The choanal atresia can cause serious breathing difficulties, especially in newborns who naturally breathe through their noses. Eye problems may include small eyes (microphthalmia), coloboma (gaps in eye structures), or other developmental anomalies that can affect vision. This syndrome may also be associated with other birth defects and growth problems. Because the diarrhea is so severe, affected infants often have trouble gaining weight and growing normally, and they may require long-term intravenous nutrition (total parenteral nutrition or TPN). The treatment landscape is largely supportive, focusing on managing each symptom individually. Surgical correction of choanal atresia, nutritional support for the diarrhea, and ophthalmologic care for eye problems are the main approaches. Due to the extreme rarity of this condition, there are no specific targeted therapies, and management is guided by the experience of multidisciplinary medical teams.
Key symptoms:
Severe, persistent diarrhea that does not respond to treatmentBlocked nasal passages (choanal atresia) causing breathing difficultyEye abnormalities such as small eyes or gaps in eye structuresPoor weight gain and failure to thriveDifficulty feedingDehydration from fluid lossGrowth delayBreathing problems, especially in newbornsPossible vision impairmentElectrolyte imbalances from chronic diarrhea
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 Intractable diarrhea-choanal atresia-eye anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intractable diarrhea-choanal atresia-eye anomalies syndrome.
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 Intractable diarrhea-choanal atresia-eye anomalies syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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 specific cause of my child's diarrhea, and are there any treatments that might help control it?,When should the choanal atresia surgery be performed, and what are the risks?,What type of eye problems does my child have, and how will they affect vision long-term?,Should we pursue genetic testing, and what would the results mean for our family?,How long will my child need intravenous nutrition, and what are the risks of long-term TPN?,Are there any clinical trials or new research studies that might be relevant for this condition?,What support services are available for our family to help manage daily care?
Common questions about Intractable diarrhea-choanal atresia-eye anomalies syndrome
What is Intractable diarrhea-choanal atresia-eye anomalies syndrome?
Intractable diarrhea-choanal atresia-eye anomalies syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its three main features: severe, hard-to-treat (intractable) diarrhea, choanal atresia (a blockage of the nasal passages at the back of the nose), and various eye abnormalities. Babies born with this condition typically have life-threatening watery diarrhea that begins in the newborn period and does not respond well to standard treatments. The choanal atresia can cause serious breathing difficulties, especially in newborns who natu
How is Intractable diarrhea-choanal atresia-eye anomalies syndrome inherited?
Intractable diarrhea-choanal atresia-eye anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intractable diarrhea-choanal atresia-eye anomalies syndrome typically begin?
Typical onset of Intractable diarrhea-choanal atresia-eye anomalies syndrome is neonatal. Age of onset can vary across affected individuals.