Donnai-Barrow syndrome

A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the L

A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.

Signs and symptoms

• Hearing impairment
• Non-acidotic proximal tubulopathy
• Agenesis of corpus callosum
• Proteinuria
• High myopia
• Aplasia/Hypoplasia of the corpus callosum
• Sensorineural hearing impairment
• Broad nasal tip
• Depressed nasal bridge
• Infra-orbital crease

Also known as: DBS/FOAR syndrome; FOAR syndrome; Holmes-Schepens syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; diaphragmatic hernia-exomphalos-hypertelorism syndrome