Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder marked by the presence of diaphragmatic hernia, exomphalus, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness. In addition, DBS is characterized by facial dysmorphism, including severe hypertelorism with downslanting palpebral fissures, 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. This condition is not life-threatening, but the functional prognosis depends on the degree of visual and hearing handicap.
Mutations in the LRP2 gene are known to cause Donnai-Barrow syndrome. LRP2 gene encodes for megalin protein, which is a multi-ligand receptor that regulates levels of diverse circulating compounds.