Donnai-Barrow syndrome

Donnai-Barrow syndrome is a disease with multiple malformations, which is inherited as an autosomal recessive trait.

The disease manifests in the prenatal period. Typical symptoms include facial dysmorphism (a short flat nose, high broad forehead, proptosis and an oblique cleft of the eyelid), loss of hearing, eye abnormalities, mental retardation to varying extents and diaphragmatic hernias. 

The cause is a mutation in the LRP2 gene, which encodes for megalin.

In the pre-natal and in the neonatal period, a high lethality is to be expected in those affected. If the patient survives this phase, a generally good health can be expected in the childhood and adolescence.