osteoporosis-pseudoglioma syndrome
MeSH: C536063ORPHA: 2788
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with osteoporosis-pseudoglioma syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityOsteoporosisIncreased susceptibility to fracturesRetinal detachmentOsteopeniaSeverely reduced visual acuityLoss of ambulationWaddling gaitMetaphyseal wideningAbnormal vitreous humor morphologyCrumpled long bonesCongenital blindnessSerous retinal detachmentCorneal opacityFloppy infantLow serum calcitriolAngle closure glaucomaExudative vitreoretinopathyAbnormal lower limb bone morphologyMicrophthalmiaDelayed speech and language developmentGlobal developmental delayFrontal bossingDelayed gross motor developmentWormian bonesAbnormal femoral neck/head morphologyShort statureCongenital nystagmusVisual acuity light perception with projectionPreauricular skin tagBlue scleraeIsosexual precocious pubertyModerately reduced visual acuityAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
C536063Orphanet Code
ORPHA:2788osteoporosis-pseudoglioma syndrome
| MeSH | C536063 |
| Orphanet | ORPHA:2788 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO