Donnai-Barrow syndrome

Donnai-Barrow syndrome is an inherited genetic disorder that affects many parts of the body. It was first described by Dian Donnai and Margaret Barrow in 1993 and is caused by mutations in the LRP2 gene, which makes a receptor protein called megalin. People with the syndrome typically have wide-set prominent eyes, a short bulbous nose and a widow's peak hairline, together with severe sensorineural hearing loss from inner ear abnormalities. Vision problems are common, including high myopia, retinal detachment and progressive vision loss, and the corpus callosum connecting the brain halves is underdeveloped or absent in almost everyone affected. Mild to moderate intellectual disability and developmental delay are usual, and a diaphragmatic hernia or an abdominal wall opening called an omphalocele can occur.