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 | ||
| Abnormality of the pancreas | 0001732 | |
|
Darkened and thickened skin
|
0000956 | |
| Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| Cloverleaf skull | 0002676 | |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Hearing abnormality |
Abnormal hearing
|
0000364 |
| Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
| Macrotia |
Large ears
|
0000400 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Melanocytic nevus |
Beauty mark
|
0000995 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Palmoplantar cutis gyrata | 0007469 | |
| Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
| Preauricular skin furrow |
Preauricular skin groove
Skin groove in front of the ear
[ more ]
|
0004450 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
|
Drooping upper eyelid
|
0000508 | |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
| Visceral angiomatosis | 0100761 | |
| 30%-79% of people have these symptoms | ||
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| 0001363 | ||
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Prominent scrotal raphe | 0003246 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of the nail | 0001597 | |
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
| Anteriorly placed anus | 0001545 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
|
Cleft roof of mouth
|
0000175 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| 0000822 | ||
| Narrow mouth |
Small mouth
|
0000160 |
| Optic atrophy | 0000648 | |
| Thickened helices | 0000391 | |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Agenesis of |
0001274 | |
| 0000006 | ||
| Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
| Global |
0001263 | |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Palmoplantar cutis laxa |
Excessive wrinkled skin of palms and soles
Increased wrinkles of palms and soles
Wrinkled palms and soles
Wrinkled skin of hands and feet
[ more ]
|
0007517 |
| Skin tags | 0010609 | |
| Small nail |
Small nails
|
0001792 |
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.
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.
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.
