Orpha Number: 85167
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 | ||
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
| Cone/cone-rod dystrophy | 0000548 | |
| Decreased hip abduction | 0003184 | |
| Iris hypopigmentation | 0007730 | |
| Metaphyseal cupping | 0003021 | |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Rhizomelia | 0008905 | |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Spondylometaphyseal dysplasia | 0002657 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of color vision |
Abnormal color vision
|
0000551 |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ]
|
0008499 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Large central visual field defect |
Large central loss of field of vision
|
0001129 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Peripheral visual field loss |
Loss of peripheral vision
|
0007994 |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
|
Abnormal curving of the spine
|
0002650 | |
| Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
| 5%-29% of people have these symptoms | ||
| Limited elbow movement |
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ]
|
0002996 |
| Short palm | 0004279 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of macular pigmentation | 0008002 | |
| 0000007 | ||
|
Short fingers or toes
|
0001156 | |
| Coxa vara | 0002812 | |
| Cupped ribs |
Rib cupping
|
0000887 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Femoral bowing |
Bowed thighbone
|
0002980 |
| Hypoplastic inferior ilia | 0008821 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Narrow greater sacrosciatic notches | 0003375 | |
| Ovoid vertebral bodies | 0003300 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
| Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
| Severe platyspondyly | 0004565 | |
| Short finger |
Stubby finger
Stubby fingers
[ more ]
|
0009381 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
