Orpha Number: 137888
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||
|1%-4% of people have these symptoms|
Retraction of the tongue
Little lower jaw
Small lower jaw[ more ]
|Stenosis of the external auditory canal||0000402|
|Percent of people who have these symptoms is not available through HPO|
|Anterior open-bite malocclusion||
Absence of overlap of anterior upper and lower teeth
Gap between upper and lower front teeth when biting[ more ]
|Cleft at the superior portion of the pinna||0008537|
Simple, cup-shaped ears[ more ]
Overcrowding of teeth[ more ]
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches[ more ]
|Hypoplastic superior helix||0008559|
Low set ears
Lowset ears[ more ]
Increased size of skull
Large head circumference[ more ]
|Mandibular condyle aplasia||0007627|
|Mandibular condyle hypoplasia||0007628|
|Overfolding of the superior helices||0004453|
|Postauricular skin tag||
Skin tag behind the ear
|Posteriorly rotated ears||0000358|
|Preauricular skin tag||0000384|
Round facial appearance
Round facial shape[ more ]
|Speech articulation difficulties||0009088|
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.
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.
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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