Orpha Number: 93352
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||
|80%-99% of people have these symptoms|
|Abnormal epiphyseal ossification||0010656|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the ribs||
|Flat acetabular roof||0003180|
Outward bowing at knees[ more ]
Excessive inward curvature of lower spine
Broad wide portion of long bone
Smaller or shorter than typical limbs
Short stature, severe[ more ]
|Short iliac bones||
Short pelvis bones
Decreased length of neck
Shorter than typical length between neck and abdomen
|Thin vermilion border||
Decreased volume of lip
Thin lips[ more ]
|30%-79% of people have these symptoms|
Bloating[ more ]
|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 ]
Impaired gait[ more ]
Joints move beyond expected range of motion
Round facial appearance
Round facial shape[ more ]
Increased spleen size
|5%-29% of people have these symptoms|
Extra bones within cranial sutures
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the abdominal wall||0004298|
|Central vertebral hypoplasia||0008463|
|Delayed epiphyseal ossification||0002663|
|Disproportionate short stature||0003498|
Overgrowth of calf bone
Flared wide portion of long bone
Loosejointedness[ more ]
Short limbs[ more ]
Irregular wide portion of a long bone
|Narrow greater sacrosciatic notches||0003375|
|Narrow vertebral interpedicular distance||0008450|
|Short femoral neck||
Short neck of thighbone
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.
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