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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| 2-4 toe cutaneous |
Webbed 2nd, 3rd and 4th toes
Webbed second, third and fourth toes
[ more ]
|
0005768 |
| 4-5 finger syndactyly |
Webbed 4th-5th finger
|
0010705 |
| Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
| 0000007 | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad long bones |
Wide long bones
Widened long bones
[ more ]
|
0005622 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Fifth finger distal phalanx clinodactyly | 0005769 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Frontal bossing | 0002007 | |
| Hypoplasia of teeth | 0000685 | |
| Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
| Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
| Long philtrum | 0000343 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Macrodontia of permanent maxillary central incisor | 0000675 | |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Mild global |
0011342 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow mouth |
Small mouth
|
0000160 |
| Narrow nose |
Decreased nasal breadth
Decreased nasal width
Thin nose
[ more ]
|
0000460 |
| Persistent pupillary membrane | 0009917 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Small hand |
Disproportionately small hands
|
0200055 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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.
