Orpha Number: 2634
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 tibia morphology||
Abnormality of the shankbone
Abnormality of the shinbone[ more ]
Short calf bone
|Hypoplasia of the ulna||0003022|
|Radial head subluxation||0003048|
|Ulnar deviation of finger||0009465|
|30%-79% of people have these symptoms|
|Synostosis of carpal bones||
Fusion of wrist bones
|5%-29% of people have these symptoms|
Nearsightedness[ more ]
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Neonatal short-limb short stature||
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth[ more ]
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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