Donnai-Barrow syndrome [DBS, OMIM#222448] is characterized by agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphism, ocular anomalies, sensorineural hearing loss and developmental delay. DBS has clinical overlap with facio-oculo-acoustico-renal syndrome [FOAR, OMIM#227920], however FOAR syndrome is typically reported as having proteinuria but lacking agenesis of the corpus callosum and congenital diaphragmatic hernia. No one clinical feature is pathognomic for DBS. The diagnosis should be considered when several of the clinical features are present in combination.
Specimen Types Accepted