NLM Logo

Osteoporosis-pseudoglioma syndrome MeSH Supplementary Concept Data 2023


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
Registry Number
0
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 Preferred
page delivered in 0.006s