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Osteoporosis-pseudoglioma syndrome
rareOsteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
- Identifiers
- MONDO:0009820 OMIM:259770Orphanet:2788
- Part of
- LRP5-related exudative vitreoretinopathyAutosomal recessive diseaseCongenital vitreoretinal dysplasiaOsteogenesis imperfecta and a reduction of bone mineral density.Syndromic disease
- Also known as
- OPPG · osteogenesis imperfecta ocular form · osteoporosis pseudoglioma syndrome · pseudoglioma with bone fragility
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