Orpha Number: 2502
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 |
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the nail | 0001597 | |
Anterior polar |
0001134 | |
0000007 | ||
0001156 | ||
Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
Broad phalanx |
Wide digital bones
|
0006009 |
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ]
|
0001498 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Coxa vara | 0002812 | |
Cupped ribs |
Rib cupping
|
0000887 |
Disproportionate short-limb |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ]
|
0008873 |
Flat glenoid fossa | 0000911 | |
Genu valgum |
Knock knees
|
0002857 |
Genu varum | 0002970 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
Irregular chondrocostal junctions | 0006606 | |
Irregular iliac crest | 0003796 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Lumbar hyperlordosis | 0002938 | |
Metaphyseal cupping | 0003021 | |
Metaphyseal dysostosis | 0005899 | |
Metaphyseal dysplasia | 0100255 | |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Narrow iliac wings | 0002868 | |
Obesity |
Having too much body fat
|
0001513 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Abnormal curving of the spine
|
0002650 | |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short long bone |
Long bone shortening
|
0003026 |
Short palm | 0004279 | |
Short ribs | 0000773 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 |
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.
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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