Preferred Label : Osteoporosis - pseudoglioma;
ICD-11 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. Additional clinical manifestations may include microphthalmos,
abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly,
ligamental laxity, mental retardation and hypotonia.;
Origin ID : 1869284551;
Automatic exact mappings (from CISMeF team)
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.
