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 | ||
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Osteolysis |
Breakdown of bone
|
0002797 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the foot |
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ]
|
0001760 |
| 0000007 | ||
| Distal radial epiphyseal osteolysis | 0006449 | |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Knee flexion contracture | 0006380 | |
| Metacarpal osteolysis | 0001504 | |
| Osteolytic defects of the distal phalanges of the hand | 0009839 | |
| Osteolytic defects of the middle phalanges of the hand | 0009847 | |
| Osteolytic defects of the proximal phalanges of the hand | 0009855 | |
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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