Donnai-Barrow Syndrome

Donnai-Barrow Syndrome

Donnai-Barrow syndrome is a rare genetic disorder characterised by craniofacial anomalies, sensorineural hearing loss, and kidney abnormalities. Mutations in the LRP2 gene cause Donnai-Barrow syndrome. Patients often present with high myopia and developmental delays. Early diagnosis of Donnai-Barrow syndrome is crucial for management and improving life quality.