Osteoporosis-pseudoglioma syndrome

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

Also Known As:

Osteogenesis imperfecta, ocular form; Pseudoglioma with bone fragility

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Osteogenesis Imperfecta: 2193
        Osteoporosis-pseudoglioma syndrome: 36
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteogenesis Imperfecta: 2193
    - Osteoporosis-pseudoglioma syndrome: 36
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Collagen Diseases: 754
    - Osteogenesis Imperfecta: 2193
      - Osteoporosis-pseudoglioma syndrome: 36

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