Disease Information for Winchester syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Hirsutism
Hypertrichosis
Increased pigmentation/tanning/hyperpigmented
Gum hypertrophy
Deformed hand/digits
Coarsened facial features
Short stature
Short stature Child
Corneal opacity
Eye symptoms/signs
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
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
Diagnostic Test Results
CT Scan
CT/Dexa-Scan Bone density Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Blindness
Cataract
Contractures/scars
Hyperpigmentation
Joint contractures
Male osteoporosis syndrome
Osteoporosis/osteopenia
Pathologic fractures
Metabolic Bone Disease
Disease Mechanism & Classification
Class
CLASS/Ophthalmology Specialty Population
CLASS/Pediatric disorders (ex)
CLASS/Skeletal (category)
CLASS/Ophthalmology disorders
CLASS/Eye involvement/disorder (ex)
CLASS/Eyes/accessory (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Osteoporosis Secondary
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Definition

Winchester Syndrome; Winchester-Grossman Syndrome;

Winchester syndrome is an extremely rare connective tissue disorder believed by some scientists to be closely related to the mucopolysaccharidoses, which is a group of hereditary metabolic diseases caused by the absence or malfunction of certain enzymes, leading to the accumulation in cells and tissues of molecules that would normally be broken down into smaller units; This syndrome is characterized by short stature, arthritis-like symptoms, nodules under the skin (subcutaneous), coarse facial features, and eye and teeth abnormalities; Winchester syndrome is believed to be inherited as an autosomal recessive trait----[NORD 2005]--------------

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External Links Related to Winchester 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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