Living with Intractable diarrhea-choanal atresia-eye anomalies syndrome
A rare syndrome in infants with hard-to-treat diarrhea, a blocked nasal passage, and eye differences.
Understanding Intractable diarrhea-choanal atresia-eye anomalies syndrome
Other reported features include short stature, a prominent broad nasal bridge, a small jaw, a single crease across the palms, long-lasting inflammation of the cornea, low blood counts, and unusual hair texture. People do not have intellectual disability or immune deficiency, which helps tell it apart from other forms of infant diarrhea.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes:
- Hard-to-treat diarrhea in infancy
- Blocked back nasal passages (choanal atresia)
- Short stature
- Long-lasting inflammation of the cornea
- Low blood counts
- Unusual hair texture
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't describe a cause for this condition yet.
Also known as: intractable diarrhea with choanal atresia and eye anomaly syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Intractable diarrhea-choanal atresia-eye anomalies syndrome.
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