Disease Information for DiFerrente syndrome (Mucopolysaccharidosis VIII)

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Clinical Manifestations
Signs & Symptoms
Hypertrichosis
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Delayed speech/language development
Developmental milestones delayed
Mental Deficiency Child
Hyperactivity, child/signs
Psychomotor retardation
Short attention span
Enlarged costochondral joints/ribs
Splenomegaly
Clinical Presentation & Variations
Presentation/Degenerative cerebral disease Progressive Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Heparan sulfate
URINE Keratan sulfate
Diagnostic Test Results
X-RAY
Xray/Dysostosis multiplex findings
Xray/Hip/Small femoral epiphysis
Xray/Hypoplastic Odontoid process/Atlas
Xray/Ovoid vertebra deformity/Spine
Associated Diseases & Rule outs
Associated Disease & Complications
Deafness
DiFerrente syndrome (Mucopolysaccharisosis VIII)
Dysostosis multiplex
Mental retardation
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/N-acetylglucosamine 6-sulfatase defect
Pathophysiology/Glucosamine 6-sulfatase defect
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
Synonyms
Synonym
DiFerrente syndrome (Mucopolysaccharidosis VIII), Synonym/MPS VIII syndrome, Synonym/Sanfilippo variant/IIID, Synonym/Type IIID mucopolysaccharidosis, Synonym/Type VIII mucopolysaccharidosis
Definition

An inborn error of mucopolysaccharide metabolism with glucosamine-6-sulfate sulfatase deficiency and characteristics similar to those of mucopolysaccharidosis II and IV; Delayed physical and mental development, hypertrichosis, hepatosplenomegaly, dysostosis multiplex, and mild deafness are the main symptoms-------[Jablonski/NIH Archive 2007]---------

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External Links Related to DiFerrente syndrome (Mucopolysaccharidosis VIII)
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Wikipedia
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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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