Orpha Number: 3312
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||
|30%-79% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
|Abnormality of fibula morphology||
Abnormality of the calf bone
|Aplasia/hypoplasia of the femur||
Absent/underdeveloped thighbone[ more ]
|Aplasia/hypoplasia of the humerus||
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm[ more ]
|Aplasia/Hypoplasia of the thumb||
Absent/underdeveloped thumb[ more ]
|Aplasia/Hypoplasia of the ulna||0006495|
|Radial club hand||0004059|
Decreased body height
Small stature[ more ]
Claw hand deformities
Split-hand[ more ]
|Upper limb phocomelia||0009813|
|5%-29% of people have these symptoms|
Hearing defect[ 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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
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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