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|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Midline defect of the nose||0004122|
Drooping upper eyelid
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Abnormality of the thyroid gland||
Thyroid disease[ more ]
|Abnormality of the voice||
|Asymmetry of the thorax||
Round back[ more ]
|Multiple cafe-au-lait spots||0007565|
|Short hard palate||0010290|
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the mitral valve||0001633|
Pale pigmentation[ more ]
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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There seems to be limited material available pertaining to FACES syndrome. Could you please provide me some information? Thank you.