Donnai-Barrow syndrome is characterized by diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. Facial dysmorphism is specific, including a severe hypertelorism with downslanting palpebral fissures, a short bulbous nose, and posteriorly rotated ears. Some patients also have iris coloboma, retinal detachment, and intestinal malrotation. Intellectual impairment is variable. In rare cases, proteinuria is present and has lead to the suggestion that Donnai-Barrow and FOAR syndrome are allelic. Patients have facial characteristics that share similarities with several other disorders like Kniest syndrome and Stickler syndrome, but there is no evidence of skeletal anomalies in Donnai-Barrow syndrome. Donnai-Barrow syndrome is probably transmitted by an autosomal recessive mode of inheritance. This condition is not life-threatening but the functional prognosis depends on the degree of visual and hearing handicap and might be poor.
Last update: February 2005