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- Disease Information
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Disease Processes ▼
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Disease Information for Winchester syndrome
- 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)
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- 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
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- CLASS/Skeletal (category)
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- Pathophysiology/Osteoporosis Secondary
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- PROCESS/Autosomal recessive disorder (ex)
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- Definition
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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
- 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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