Orpha Number: 2788
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 | ||
| Abnormality of the femoral neck or head region |
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 | |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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