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 | ||
| Cervical platyspondyly | 0004558 | |
| 0000819 | ||
| Flat acetabular roof | 0003180 | |
| Generalized bronze hyperpigmentation | 0007574 | |
| Genu valgum |
Knock knees
|
0002857 |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Hypoplasia of the odontoid process | 0003311 | |
| Increased circulating cortisol level | 0003118 | |
|
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 | |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Irregular acetabular roof | 0008833 | |
| Irregular sclerotic endplates | 0008476 | |
| Joint swelling | 0001386 | |
| Kyphoscoliosis | 0002751 | |
| Large hands |
large hand
|
0001176 |
| Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
| Macrotia |
Large ears
|
0000400 |
| Marked delay in bone age |
Markedly retarded bone age
|
0003799 |
| Ovoid thoracolumbar vertebrae | 0003309 | |
| Palmoplantar cutis laxa |
Excessive wrinkled skin of palms and soles
Increased wrinkles of palms and soles
Wrinkled palms and soles
Wrinkled skin of hands and feet
[ more ]
|
0007517 |
| Premature adrenarche | 0012412 | |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| 0001250 | ||
| Short long bone |
Long bone shortening
|
0003026 |
| Small cervical vertebral bodies | 0004629 | |
| Sporadic |
No previous family history
|
0003745 |
| Talipes valgus | 0004684 | |
| Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
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.
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.
