Orpha Number: 1277
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|
|Abnormal mitral valve morphology||0001633|
|Abnormal palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
|Abnormality of the shoulder||0003043|
Short fingers or toes
Abnormality of cognition
Mental impairment[ more ]
|Convex nasal ridge||
Polly beak nasal deformity[ more ]
|Hernia of the abdominal wall||0004299|
Long rib cage
Disproportionately short middle portion of limb
Little lower jaw
Small lower jaw[ more ]
|Reduced number of teeth||
Decreased tooth count
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.