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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Cleft helix | 0009902 | |
| External ear malformation | 0008572 | |
| Mandibular condyle hypoplasia | 0007628 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the crus of the helix | 0009895 | |
| Abnormality of the temporomandibular joint |
Abnormality of the jaw joint
Deformity of the jaw joint
Malformation of jaw joint
[ more ]
|
0010754 |
| Aplasia/Hypoplasia of the external ear |
Absent/small external ear
Absent/underdeveloped external ear
[ more ]
|
0008772 |
| Bifid uvula | 0000193 | |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Difficulty in tongue movements | 0000183 | |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| Glossoptosis |
Retraction of the tongue
|
0000162 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Obstructive sleep apnea | 0002870 | |
| Periauricular skin pits |
Pits around the ear
|
0100277 |
| Preauricular skin tag | 0000384 | |
| Question mark ear |
Question mark ears
|
0030022 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Snoring | 0025267 | |
| 5%-29% of people have these symptoms | ||
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hamartoma of tongue | 0011802 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Mandibular condyle aplasia | 0007627 | |
| Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ]
|
0000171 |
|
Drooping upper eyelid
|
0000508 | |
| 1%-4% of people have these symptoms | ||
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
| Vein of Galen aneurysmal malformation | 0030713 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Ankylosis | 0031013 | |
| Anterior open-bite malocclusion |
Absence of overlap of anterior upper and lower teeth
Gap between upper and lower front teeth when biting
[ more ]
|
0009102 |
| Apnea | 0002104 | |
| 0000006 | ||
| Cleft at the superior portion of the pinna | 0008537 | |
|
Cleft roof of mouth
|
0000175 | |
| Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
| Hypoplastic superior helix | 0008559 | |
| Impaired mastication |
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ]
|
0005216 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Overfolding of the superior helices | 0004453 | |
| Postauricular skin tag |
Skin tag behind the ear
|
0004451 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| 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.
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.
