Orpha Number: 3021
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||
|Percent of people who have these symptoms is not available through HPO|
|Aplasia/Hypoplasia of the patella||
Absent/underdeveloped kneecap[ more ]
|Aplasia/Hypoplasia of the radius||0006501|
Narrow opening between the eyelids
Hearing defect[ more ]
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
Recurrent joint dislocations[ more ]
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face[ more ]
Mottled skin coloring
Decreased height of chin
Short lower third of face[ more ]
Decreased body height
Small stature[ more ]
|Stiff interphalangeal joints||
Stiff hinge joints
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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