Orpha Number: 2791
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|
|Abnormality of canine||
Abnormality of eye tooth
Tooth decay[ more ]
|Progressive sensorineural hearing impairment||0000408|
|30%-79% of people have these symptoms|
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of the maxilla||
Abnormality of the upper jaw bone
Abnormality of the upper jaw bones[ more ]
|Agenesis of premolar||0011051|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Increased size of cheeks
Large cheeks[ more ]
|High-frequency sensorineural hearing impairment||0001757|
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face[ more ]
|5%-29% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Cornea of eye less than 10mm in diameter
Abnormally small eyeball
|Otitis media with effusion||
Fluid behind eardrum
Hole in the back of the eye
|Percent of people who have these symptoms is not available through HPO|
Failure of development of between one and six teeth
|Sensorineural hearing impairment||0000407|
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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