osteoporosis-pseudoglioma syndrome
Findings
No curated finding names osteoporosis-pseudoglioma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
Definition from the Mondo Disease Ontology (MONDO:0009820), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
55 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BlindnessHPOHP:0000618
- 5 of 5 reported patients
- Increased susceptibility to fracturesHPOHP:0002659
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- 4 of 4 reported patients
- PseudogliomaHPOHP:6000262
- 4 of 4 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 4 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Retinal detachment
Show the remaining 43
- Abnormal lower limb bone morphologyHPOHP:0040069
- Frequent (30% to 79% of cases)
- Abnormal vitreous humor morphologyHPOHP:0004327
- Frequent (30% to 79% of cases)
- Angle closure glaucomaHPOHP:0012109
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Crumpled long bonesHPOHP:0006367
- Frequent (30% to 79% of cases)
- Decreased circulating calcitriol concentrationHPOHP:0012052
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LRP5HGNC:6697
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: osteoporosis-pseudoglioma syndrome
- Also called
- OPPG