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 |
---|---|---|
30%-79% of people have these symptoms | ||
0008780 | ||
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 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Hirsutism |
Excessive hairiness
|
0001007 |
Hyperactivity |
More active than typical
|
0000752 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
0001250 | ||
Decreased body height
Small stature
[ more ]
|
0004322 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
5%-29% of people have these symptoms | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Increased serum serotonin | 0003144 | |
Percent of people who have these symptoms is not available through HPO | ||
Bruxism |
Teeth grinding
|
0003763 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Global |
0001263 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Intellectual disability, profound |
IQ less than 20
|
0002187 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
0002650 | ||
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Small hand |
Disproportionately small hands
|
0200055 |
0001417 |
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.