Osteoporosis-pseudoglioma syndrome [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536063
Heading Mapped to:
Entry Terms:
- Pseudoglioma with bone fragility
- Osteogenesis imperfecta, ocular form