osteoporosis pseudoglioma syndrome; osteogenesis imperfecta ocular form

Genetics

associated with mutations in LRP5 gene (low density lipoprotein receptor-related protein-5)

Clinical manifestations

• short stature
• osteoporosis
• spontaneous fractures
• kyphoscoliosis
• hyperextensible joints
• microcephaly
• normal intelligence most cases, some mild mental retardation

More general terms

• genetic disease of bone/skeletal system
• genetic disease of the eye

Additional terms

• osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)

Database

• OMIM: https://mirror.omim.org/entry/259770
• OMIM: https://mirror.omim.org/entry/603506