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 | ||
| Abnormal heart valve morphology | 0001654 | |
| Abnormal vertebral morphology | 0003468 | |
| Abnormality of the tonsils | 0100765 | |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Corneal opacity | 0007957 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hernia | 0100790 | |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
| Rhinitis |
Nasal inflammation
|
0012384 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Skeletal dysplasia | 0002652 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| 30%-79% of people have these symptoms | ||
| Abnormal nerve conduction velocity | 0040129 | |
| Abnormal pyramidal signs | 0007256 | |
| Sensorineural hearing impairment | 0000407 | |
| Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
| 5%-29% of people have these symptoms | ||
| 0001638 | ||
| Generalized hirsutism | 0002230 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Aortic regurgitation | 0001659 | |
| 0000007 | ||
| 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 |
| Dysostosis multiplex | 0000943 | |
| Hirsutism | 0001007 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Mitral regurgitation | 0001653 | |
| Obstructive sleep apnea | 0002870 | |
| Pulmonary arterial |
0002092 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
|
Abnormal curving of the spine
|
0002650 | |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
| Umbilical hernia | 0001537 | |
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.
National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018
Orphan Disease Center: MPS I Pilot Grant Program
February 15, 2016
The following diseases are related to Hurler–Scheie syndrome . If you have a question about any of these diseases, you can contact GARD.
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