Orpha Number: 85287
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 | ||
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
Cleft upper lip |
Harelip
|
0000204 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
Large hands |
large hand
|
0001176 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
30%-79% of people have these symptoms | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
5%-29% of people have these symptoms | ||
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Preaxial hand |
Extra thumb
|
0001177 |
0002650 | ||
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
Percent of people who have these symptoms is not available through HPO | ||
0410030 | ||
Cleft roof of mouth
|
0000175 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Long toe |
Increased length of toes
Long toes
[ more ]
|
0010511 |
Nasal speech |
Nasal voice
|
0001611 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
Thoracic kyphosis | 0002942 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
0001419 |
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.