Catalog

Osteoporosis - pseudoglioma

No MMS code

Link to WHO Definition

Osteoporosis - pseudoglioma – http://id.who.int/icd/entity/1869284551

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterised 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.