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intractable diarrhea-choanal atresia-eye anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intractable diarrhea-choanal atresia-eye anomalies syndrome

MONDO:0015295

Overview

Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.

Diagnosis

Biomarker and diagnostic research for intractable diarrhea-choanal atresia-eye anomalies syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intractable diarrhea-choanal atresia-eye anomalies syndrome.

53 publications have been identified in PubMed for intractable diarrhea-choanal atresia-eye anomalies syndrome. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	23	45%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:137622

GARD

Genetic and Rare Diseases Info Center

GARD:19882

Questions for Your Care Team

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intractable diarrhea-choanal atresia-eye anomalies syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications