|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|
|Percent of people who have these symptoms is not available through HPO|
Symptoms begin in childhood
|Constriction of peripheral visual field||
Limited peripheral vision
|Lower eyelid retraction||0030802|
|Marcus Gunn pupil||0200057|
Damaged optic nerve
|Reduced visual acuity||
Decreased clarity of vision
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Noonan-like syndrome, hyperparathyroidism-jaw tumor syndrome, fibrous dysplasia of bone (see these terms), brown tumor of hyperparathyroidism, and central giant-cell granuloma.
Visit the Orphanet disease page for more information.
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.
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
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