Intractable diarrhoea - choanal atresia - eye anomalies (Q107190)

Intractable diarrhoea - 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.