The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Decreased body weight||90%|
|Midline defect of the nose||90%|
|Abnormality of retinal pigmentation||50%|
|Abnormality of the thyroid gland||50%|
|Abnormality of the voice||50%|
|Asymmetry of the thorax||50%|
|Short hard palate||50%|
|Skeletal muscle atrophy||50%|
|Abnormality of the mitral valve||7.5%|
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. Submit a new question
There seems to be limited material available pertaining to FACES syndrome. Could you please provide me some information? Thank you.