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Disease Profile
Hurler–Scheie syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
E76.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Mucopolysaccharidosis Ih/s ; MPS1-HS; MPS1H/S;
Categories
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
Summary
Orpha Number: 93476
Symptoms
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 sign | 0007256 | |
Sensorineural hearing impairment | 0000407 | |
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
5%-29% of people have these symptoms | ||
Disease of the heart muscle
|
0001638 | |
Generalized hirsutism |
Excessive hairiness over body
|
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 |
Excessive hairiness
|
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 |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
0002650 | ||
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Thickened skin |
Thick skin
|
0001072 |
Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
Umbilical hernia | 0001537 |
Learn more
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.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.