Orpha Number: 2220
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 skin morphology |
Abnormal skin structure
|
0011121 |
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
30%-79% of people have these symptoms | ||
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ]
|
0002381 |
Dysphasia | 0002357 | |
Echolalia |
Echoing another person's speech
|
0010529 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Mutism |
Inability to speak
Muteness
[ more ]
|
0002300 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
5%-29% of people have these symptoms | ||
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ]
|
0000499 |
Abnormal nasolacrimal system morphology | 0000614 | |
Abnormality of the neck | 0000464 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Global |
0001263 | |
High forehead | 0000348 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
Drooping upper eyelid
|
0000508 | |
Specific learning disability | 0001328 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
1%-4% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Percent of people who have these symptoms is not available through HPO | ||
Elbow hypertrichosis |
Hairy elbow
Hairy elbow syndrome
[ more ]
|
0004780 |
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.
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