MeSH Browser

MeSH Supplementary: Osteoporosis-pseudoglioma syndrome
Unique ID: C536063
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536063
Entry Term(s): Osteogenesis imperfecta, ocular form; Pseudoglioma with bone fragility
Heading Mapped to: *Osteogenesis Imperfecta
Frequency: 27
Note: A congenital syndrome characterized by short stature, childhood-onset osteoporosis; MICROCEPHALY; severe ocular defects including blindness, MICROPHTHALMIA; pseudoglioma (intraocular opacity mimicking retinoblastoma), and intraocular calcification. Some patients may also have VENTRICULAR SEPTAL DEFECTS and neurologic symptoms. It is caused by mutations in the LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN (LRP5) gene. OMIM: 259770
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Osteoporosis-pseudoglioma syndrome MeSH Supplementary Concept Data 2024