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Disease Profile
Osteoporosis-pseudoglioma syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
Q87.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
OPPG; OPS; Osteogenesis imperfecta ocular form;
Categories
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;
Summary
Orpha Number: 2788
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 |
0000939 | ||
30%-79% of people have these symptoms | ||
Angle closure |
0012109 | |
Blindness present at birth
|
0007875 | |
Corneal opacity | 0007957 | |
Crumpled long bones | 0006367 | |
Exudative retinopathy | 0007898 | |
Exudative vitreoretinopathy | 0030490 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Loss of ability to walk | 0006957 | |
Low serum calcitriol | 0012052 | |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Osteopenia | 0000938 | |
Retinal detachment |
Detached retina
|
0000541 |
Severely reduced visual acuity |
Marked vision impairment
Severe visual impairment
Severely impaired vision
[ more ] |
0001141 |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
5%-29% of people have these symptoms | ||
Abnormal femoral neck/head morphology |
Abnormal neck or head of thigh bone
|
0003366 |
Congenital |
0006934 | |
Delayed gross motor development |
Delayed motor skills
|
0002194 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Frontal bossing | 0002007 | |
Global |
0001263 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Visual acuity light perception with projection | 0030551 | |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
1%-4% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Isosexual precocious puberty | 0008236 | |
Moderately reduced visual acuity |
Moderate visual impairment
|
0030515 |
Preauricular skin tag | 0000384 | |
Percent of people who have these symptoms is not available through HPO | ||
Absent anterior chamber of the eye | 0008037 | |
0000007 | ||
Barrel-shaped chest |
Barrel chest
|
0001552 |
Blindness | 0000618 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Glioma | 0009733 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Iris atrophy |
Iris degeneration
|
0001089 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Kyphoscoliosis | 0002751 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Phthisis bulbi | 0000667 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vitreoretinopathy | 0007773 |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Osteoporosis-pseudoglioma syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Osteoporosis-pseudoglioma syndrome. Click on the link to view a sample search on this topic.