Orpha Number: 2769
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 | ||
Abnormal cortical bone morphology | 0003103 | |
Aplasia/hypoplasia of the femur |
Absent/small thighbone
Absent/underdeveloped thighbone
[ more ]
|
0005613 |
Aplastic clavicle |
Absent collarbone
|
0006660 |
Bifid femur |
Notched thighbone
Split thighbone
[ more ]
|
0010443 |
Bulbous nose | 0000414 | |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
Failure of eruption of permanent teeth | 0006352 | |
0000822 | ||
Hyperuricemia |
High blood uric acid level
|
0002149 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Misalignment of teeth |
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ]
|
0000692 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
0002650 | ||
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
30%-79% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Missing ribs |
Absent ribs
Decreased rib number
[ more ]
|
0000921 |
5%-29% of people have these symptoms | ||
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
0001250 |
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.
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.