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Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
ORPHA:2788Classification level: Disorder
The estimated prevalence is 1/2 000 000.
Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.
The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5).