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|
|Abnormality of fibula morphology||
Abnormality of the calf bone
|Abnormality of tibia morphology||
Abnormality of the shankbone
Abnormality of the shinbone[ more ]
|Aplasia/Hypoplasia of the radius||0006501|
|Camptodactyly of finger||0100490|
Dislocations of the elbows
Elbow dislocations[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
Fused forearm bones
Fused ankle bones
|5%-29% of people have these symptoms|
|Abnormality of the wrist||
Abnormalities of the wrists
|Bilateral single transverse palmar creases||0007598|
|Clinodactyly of the 5th finger||0004209|
Mental retardation, nonspecific
Mental-retardation[ more ]
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
Fusion of the long bones of the feet
|Radial head subluxation||0003048|
Clubfoot[ more ]
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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