Orpha Number: 2097
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 | |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
Frontal bossing | 0002007 | |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
30%-79% of people have these symptoms | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Abnormality of the glenoid fossa | 0011912 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Brachycephaly |
Short and broad skull
|
0000248 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Flat face |
Flat facial shape
|
0012368 |
Large face |
Big face
|
0100729 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ]
|
0010807 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Skin dimple over apex of long bone angulation | 0001024 | |
Sprengel anomaly |
High shoulder blade
|
0000912 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Down-sloping shoulders |
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ]
|
0200021 |
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.
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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