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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
Related
osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
General
genetic disease of the eye
genetic disease of bone/skeletal system
Database Correlations
OMIM correlations
MORBIDMAP 603506