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Osteoporosis - pseudoglioma

Orpha number ORPHA2788
Synonym(s) OPPG
Ocular form of osteogenesis imperfecta
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • Q87.5
ICD-O -
OMIM
UMLS
  • C0432252
MeSH
  • C536063
MedDRA
  • 10052452
SNOMED CT
  • 254112001

Summary

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. Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia. The estimated prevalence is 1/2 000 000. The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5).


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