Osteoporosis-pseudoglioma syndrome

Orpha code: 2788OMIM code: 259770

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.

Disease data
Classification

Disease

Synonyms
OPPG
Oczna postać wrodzonej łamliwości kości
OPPG
Ocular form of osteogenesis imperfecta
ORPHA code
2788
OMIM code
259770
ICD10 code
Q87.5
ICD11 code
LD24.KY

No additional description.

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