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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2788
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.
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 ).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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