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intractable diarrhea-choanal atresia-eye anomalies syndrome

Disease Summary
Associated Targets ()

Mondo Description Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea 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 diarrhoea of infancy described previously.
Mondo Term and Equivalent IDs
MONDO:0015295:  intractable diarrhea-choanal atresia-eye anomalies syndrome
Orphanet:137622: 
UMLS:CN226653: