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|
Broad lower face
Wide jaw[ more ]
Increased size of cheeks
Large cheeks[ more ]
|30%-79% of people have these symptoms|
|Abnormality of dental morphology||
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Misshapened teeth[ more ]
Failure of development of more than six teeth
|5%-29% of people have these symptoms|
|Abnormality of the voice||
|Feeding difficulties in infancy||0008872|
|Obstructive sleep apnea||0002870|
|Progressive visual loss||
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive[ more ]
Eyeballs bulging out
Protruding eyes[ more ]
|Upper airway obstruction||0002781|
Loss of eyesight
Poor vision[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Constriction of peripheral visual field||
Limited peripheral vision
|Lower eyelid retraction||0030802|
|Marcus Gunn pupil||0200057|
Damaged optic nerve
|Reduced visual acuity||0007663|
Round facial appearance
Round facial shape[ 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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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
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
Has there been any genetic link found between Noonan syndrome and cherubism? I have both, and no family history of either condition. My front teeth feel like they are being compressed and it is very painful, but nothing I read about cherubism mentions pain; is there information anywhere about this? Are there any good resources, or is there any research, that you could direct me to for more information? See answer
I have cherubism. I was diagnosed at age 3 and had the tumor surgically removed at age 13. Then I had implants placed for permanent teeth at age 20. Today I live normally. My main concern and reason for contact is: I'd like to know more about the cause of cherubism. How or why did I get it? There is no history in either of my families of cherubism. What are the signs and symptoms of cherubism? Do my future children run a strong risk? Can I be tested to see if I am a carrier? If I find that I am not a carrier can they still turn up with the disease? Is there prenatal testing available for cherubism. As you can see, I am mostly concerned for the future of my family. I do not have kids yet, but do plan to. See answer