Orpha Number: 2900
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 form of the vertebral bodies||0003312|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the metacarpal bones||
Abnormality of the long bone of hand
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Wide/broad thumb[ more ]
|Camptodactyly of finger||0100490|
Impaired gait[ more ]
Knee hyperextension[ more ]
Stiff joints[ more ]
|Lack of skin elasticity||0100679|
Short stature, severe[ more ]
|Upslanted palpebral fissure||
Upward slanting of the opening between the eyelids
|30%-79% of people have these symptoms|
|Abnormally straight spine||0100795|
Narrow opening between the eyelids
Outward turned elbows
|Short palpebral fissure||
Short opening between the eyelids
|5%-29% of people have these symptoms|
Dislocations of the elbows
Elbow dislocations[ more ]
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the carpal bones||0001191|
|Abnormality of the vertebral column||
Abnormal vertebral column
Abnormality of the spine[ more ]
Wide long bones of hand
|Enlarged interphalangeal joints||
Enlarged hinge joints
Shortened long bone of hand
Short long bone of foot
Decreased body height
Small stature[ more ]
|Short stepped shuffling gait||
Short stepped shuffling walk
Small thumbs[ more ]
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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