Overview
By MedlinePlus, National Library of Medicine
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blindness
Always present (100%)HP:0000618
Decreased bone mineral density Z score
Always present (100%)HP:0004349
Decreased visual acuity
Always present (100%)HP:0007663
Flattened vertebral bodies
Always present (100%)HP:0000926
Pseudoglioma
Always present (100%)HP:6000262
Increased susceptibility to fractures
Very frequent (80-99%)HP:0002659
Osteoporosis
Very frequent (80-99%)HP:0000939
Abnormal vitreous humor morphology
Frequent (30-79%)HP:0004327
Abnormality of lower limb bone
Frequent (30-79%)HP:0040069
Congenital blindness
Frequent (30-79%)HP:0007875
Crumpled long bones
Frequent (30-79%)HP:0006367
Exudative vitreoretinopathy
Frequent (30-79%)HP:0030490
Hypotonia, early
Frequent (30-79%)HP:0008947
Leukocoria
Frequent (30-79%)HP:0000555
Loose-jointedness
Frequent (30-79%)HP:0001382
Loss of ambulation
Frequent (30-79%)HP:0002505
Low serum 1,25-dihydroxyvitamin D3
Frequent (30-79%)HP:0012052
Osteopenia
Frequent (30-79%)HP:0000938
Persistent hyperplasia of primary vitreous
Frequent (30-79%)HP:0007968
Poor school performance
Frequent (30-79%)HP:0001249
Primary angle closure glaucoma
Frequent (30-79%)HP:0012109
Retinal detachment
Frequent (30-79%)HP:0000541
Scarring or clouding of the cornea of the eye
Frequent (30-79%)HP:0007957
Serous retinal detachment
Frequent (30-79%)HP:0012231
Severely impaired vision
Frequent (30-79%)HP:0001141
Slender long bone
Frequent (30-79%)HP:0003100
Varying degree of multiple fractures
Frequent (30-79%)HP:0002757
Waddling gait
Frequent (30-79%)HP:0002515
Widened metaphyses
Frequent (30-79%)HP:0003016
Abnormality of the femoral neck or head region
Occasional (5-29%)HP:0003366
Related Conditions
Quick Facts
- SNOMED CT
- 254112001
- UMLS CUI
- C0432252
- Fully Specified Name
- Osteoporosis with pseudoglioma (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.