Orphanet: Osteoporosis pseudoglioma syndrome
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Osteoporosis-pseudoglioma syndrome

Disease definition

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:2788

Classification level: Disorder
  • Synonym(s):
    • OPPG
    • Ocular form of osteogenesis imperfecta
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.5
  • OMIM: 259770
  • UMLS: C0432252
  • MeSH: C536063
  • GARD: 4160
  • MedDRA: 10052452

Summary

Epidemiology

The estimated prevalence is 1/2 000 000.

Clinical description

Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.

Etiology

The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5).

- Last update: March 2006

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.