Disease Information for Scheie syndrome

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Clinical Manifestations
Signs & Symptoms
Aortic systolic murmur
Intelligence normal
Stiffness of joints
Dysmorphic appearance/face
Corneal clouding
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Dermatan sulfate
URINE Heparan sulfate
Associated Diseases & Rule outs
Associated Disease & Complications
Aortic dilatation/ectasia
Aortic regurgitation
Aortic stenosis
Carpal tunnel syndrome
Congenital heart disease
Glaucoma
Scheie syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/accumulation Heparan and Dermatan Sulfate
Pathophysiology/Defect alpha-L-iduronidase
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
Synonyms
Synonym
L iduronidase deficiency Scheie type, MPS 1 S Mucopolysaccharidosis type I S, MPS 1 S Mucopolysaccharid I S, MPS 5, MPS I S, Mucopolysaccharidosis 5, Mucopolysaccharidosis I mild, Mucopolysaccharidosis I S, Mucopolysaccharidosis IS, Mucopolysaccharidosis MPS I S, Mucopolysaccharidosis MPS I S (disorder), Mucopolysaccharidosis type I mild form, Mucopolysaccharidosis type I S, MUCOPOLYSACCHARIDOSIS TYPE IS, Mucopolysaccharidosis type V (MPS V), Mucopolysaccharidosis V, Scheie, Scheie disease MPS type 1S, Scheie Syndrome, Scheie's syndrome, Syndrome Scheie, Syndrome Scheie's, Syndromes Scheie, Synonym/MPS IS syndrome, Synonym/Mucopolysaccharidosis Type IS
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition
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External Links Related to Scheie syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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