intractable diarrhea-choanal atresia-eye anomalies syndrome
Findings
No curated finding names intractable diarrhea-choanal atresia-eye anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015295), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of