Disease Information for Hurler-Scheie compound syndrome/mucopol

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Clinical Manifestations
Signs & Symptoms
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Slow Motor Development
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Short stature
Short stature Child
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
URINE Mucopolysaccharides
Diagnostic Test Results
X-RAY
Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Associated Disease & Complications
Congenital heart disease
Dysostosis multiplex
Glaucoma
Hurler-Scheie compund syndrome/mucopolysac.
Skeletal dysplasia
Skeletal/bone malformations
Disease Mechanism & Classification
Class
CLASS/Connective tissue/Mesenchyme matrix disorder
Pathophysiology
Pathophysiology/Lysosome storage disorder (ex)
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)
PROCESS/Vertebral anomalous congenital syndrome
Synonyms
Synonym
Hurler Scheie disease MPS 1H S, Hurler Scheie disease MPS type 1H S, Hurler Scheie Syndrome, L iduronidase deficiency Hurler Scheie type, MPS I H S, Mucopolysaccharidosis IH S, Mucopolysaccharidosis MPS I H S, Mucopolysaccharidosis MPS I H S (disorder), MUCOPOLYSACCHARIDOSIS TYPE IH S, Syndrome Hurler Scheie, Synonym/MPS IH/S syndrome
Definition

Mucopolysaccharidosis Type I; Gargoylism; Hurler Disease; MPS Disorder I; MPS I; Subdivisions: Hurler Syndrome; (MPS IH); Hurler-Scheie Syndrome (MPS IH/S); Scheie Syndrome (MPS IS); Mucopolysaccharidoses (MPS disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules; The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities; Mucopolysaccharidosis type I (MPS I) is a form of MPS caused by a deficiency of the enzyme alpha-L-iduronidase; The most severe form of MPS I is often called Hurler syndrome (or MPS IH); It is named for the physician, Gertrud Hurler, who first described the disorder in 1919; A milder form of MPS I is called Scheie syndrome (or MPS IS), and the name Hurler-Scheie (MPS IH/S) is sometimes applied to an intermediate form that does not fit clearly in either the milder or more severe category ----------[NORD]--------------

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External Links Related to Hurler-Scheie compound syndrome/mucopol
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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