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||
|5%-29% of people have these symptoms|
Cleft roof of mouth
|Patent ductus arteriosus||0001643|
Narrowing of pulmonic valve
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the sternum||
Bulge in wall of large artery that carries blood away from heart
Tear in inner wall of large artery that carries blood away from heart
Long slender fingers
Spider fingers[ more ]
Quivering upper heart chambers resulting in irregular heartbeat
Easy bruising[ more ]
Permanent flexion of the finger or toe
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches[ more ]
|Eosinophilic infiltration of the esophagus||0410151|
Increased palatal height[ more ]
Widely spaced eyes[ more ]
|Intervertebral disc degeneration||0008419|
Loosejointedness[ more ]
|Left ventricular hypertrophy||0001712|
|Mitral valve prolapse||0001634|
Flat foot[ more ]
Abnormal curving of the spine
Displacement of one backbone compared to another
Slipped backbone[ more ]
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.
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.
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