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Disease Profile

Scheie syndrome

Prevalence
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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Mucopolysaccharidosis Is ; MPS1-S; MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 93474

Definition
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Epidemiology
Prevalence is estimated at 1/500,000.

Clinical description
Symptoms commonly occur after the age of 5 years but are so mild that diagnosis is often not considered until adulthood. Patients are of almost normal height and do not show intellectual deficiency. Corneal opacification occurs progressively and diffusely, usually after the age of four years. Glaucoma is more frequent than in Hurler syndrome (see this term). Patients present with mild coarsening of the facial features, including a large mouth with thick lips. Patients may present with nasal secretion, neurosensorial hearing loss, stiff joints, mild skeletal changes and carpal tunnel syndrome. Aortic valve disease may be present. Compression of the cervical spinal cord, caused by glycosaminoglycan infiltration of the dura, may lead to spastic paresis if not corrected by neurosurgical intervention.

Etiology
Scheie syndrome is caused by mutations in the IDUA gene (4p16.3) leading to partial deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate.

Diagnostic methods
Early diagnosis is difficult because the first clinical signs are not specific, but is very important to allow early treatment. Diagnosis is based on detection of increased urinary secretion of heparan and dermatan sulfate through the 1,9-dimethylmethylene blue (DMB) test and glycosaminoglycan (GAG) electrophoresis, and demonstration of enzymatic deficiency in leukocytes or fibroblasts. Genetic testing is available.

Differential diagnosis
Differential diagnoses include the more severe forms of mucopolysaccharidosis type 1, Hurler-Scheie syndrome and Hurler syndrome, and mucopolysaccharidosis type VI and mucopolysaccharidosis type II (see these terms).

Antenatal diagnosis
Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known.

Genetic counseling
Transmission is autosomal recessive. Genetic counseling is recommended.

Management and treatment
Management should be carried out by a multidisciplinary team and should include physiotherapy to maintain range of movement. The enzyme substitute (laronidase) obtained EU marketing authorization as an orphan drug in 2003. Given through weekly infusions it leads to improvement of lung function and joint mobility. Enzyme replacement therapy (ERT) should be started at diagnosis and may be beneficial in patients awaiting hematopoietic stem cell transplantation (HSCT). Early treatment slows the progression of the disease.

Prognosis
Life expectancy for patients with Scheie syndrome may only be slightly affected.

Visit the Orphanet disease page for more resources.

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
Glaucoma
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
Autosomal recessive inheritance
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.