Donnai-Barrow syndrome; faciooculoacousticorenal syndrome (FOAR syndrome)

Epidemiology

• rare

Genetics

• autosomal recessive disorder
• associated with defects in LRP2

Clinical manifestations

• agenesis of the corpus callosum
• congenital diaphragmatic hernia
• facial dysmorphology
• ocularanomalies
• sensorineural hearing loss
• developmental delay. The

Laboratory

• proteinuria may be present

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/222448