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Disease Profile
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.
0
Age of onset
Adolescent
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 Is ; MPS1-S; MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Orpha Number: 93474
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 nerve conduction velocity | 0040129 | |
Aortic regurgitation | 0001659 | |
Cerebral palsy | 0100021 | |
Corneal opacity | 0007957 | |
0000501 | ||
Mucopolysacchariduria | 0008155 | |
30%-79% of people have these symptoms | ||
Coarse facial features |
Coarse facial appearance
|
0000280 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Splenomegaly |
Increased spleen size
|
0001744 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
5%-29% of people have these symptoms | ||
Dysostosis multiplex | 0000943 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Retinal degeneration |
Retina degeneration
|
0000546 |
Rhinitis |
Nasal inflammation
|
0012384 |
Sensorineural hearing impairment | 0000407 | |
Spastic paraparesis | 0002313 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Percent of people who have these symptoms is not available through HPO | ||
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
0000007 | ||
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ] |
0000283 |
Cervical cord compression | 0002341 | |
Constrictive median neuropathy | 0012185 | |
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 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Genu valgum |
Knock knees
|
0002857 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Obstructive sleep apnea | 0002870 | |
Pes cavus |
High-arched foot
|
0001761 |
Short neck |
Decreased length of neck
|
0000470 |
Spondylolisthesis |
Displacement of one backbone compared to another
Slipped backbone
[ more ] |
0003302 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
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
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.