Orpha Number: 363665
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 |
---|---|---|
5%-29% of people have these symptoms | ||
0002650 | ||
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the skin | 0000951 | |
0000006 | ||
Short fingers or toes
|
0001156 | |
Delayed cranial suture closure | 0000270 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
Hyperkeratosis | 0000962 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
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 |
Increased thyroid-stimulating |
0002925 | |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Narrow nose |
Decreased nasal breadth
Decreased nasal width
Thin nose
[ more ]
|
0000460 |
Osteolytic defects of the phalanges of the hand |
Breakdown of small bones of fingers
|
0009771 |
Osteopenia | 0000938 | |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Sensorineural hearing impairment | 0000407 | |
Slender long bone |
Long bones slender
Thin long bones
[ more ]
|
0003100 |
Sparse hair | 0008070 | |
Thin calvarium |
Thin cranial bone
|
0010539 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
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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