Clinical Signs and Symptoms
ORPHA:2788 Osteoporosis-pseudoglioma syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal vitreous humor morphology HP:0004327
- Abnormality of lower limb bone HP:0040069
- Angle closure glaucoma HP:0012109
- Congenital blindness HP:0007875
- Corneal opacity HP:0007957
- Crumpled long bones HP:0006367
- Exudative retinopathy HP:0007898
- Exudative vitreoretinopathy HP:0030490
- Infantile muscular hypotonia HP:0008947
- Joint laxity HP:0001388
- Loss of ability to walk HP:0006957
- Low serum calcitriol HP:0012052
- Metaphyseal widening HP:0003016
- Osteopenia HP:0000938
- Retinal detachment HP:0000541
- Severely reduced visual acuity HP:0001141
- Waddling gait HP:0002515
- Abnormality of the femoral neck or head region HP:0003366
- Congenital nystagmus HP:0006934
- Delayed gross motor development HP:0002194
- Delayed speech and language development HP:0000750
- Frontal bossing HP:0002007
- Global developmental delay HP:0001263
- Microphthalmia HP:0000568
- Short stature HP:0004322
- Visual acuity light perception with projection HP:0030551
- Wormian bones HP:0002645
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.