Donnai-Barrow syndrome
Donnai-Barrow syndrome
Definition
Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
Also known as DBS/FOAR syndrome, diaphragmatic hernia-exomphalos-hypertelorism syndrome, diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria, Donnai-Barrow syndrome, facio-oculo-acoustico-renal syndrome, faciooculoacousticorenal syndrome, FOAR syndrome, Holmes-Schepens syndrome, syndrome of ocular and facial anomalies, telecanthus and deafness — per MONDO