Storm syndrome: Difference between revisions
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==Differentiating from other diseases== | ==Differentiating from other diseases== | ||
Differences from [[Werner syndrome]] were dominant inheritance and lack of [[cataract]]s and scleroderma-type changes. | Differences from [[Werner syndrome]] were dominant inheritance and lack of [[cataract]]s and scleroderma-type changes. | ||
==Diagnosis== | ==Diagnosis== | ||
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* Thinning and graying of scalp hair in adolescents | * Thinning and graying of scalp hair in adolescents | ||
In some young individuals [[polyarticular arthropathy]] and [[rheumatic fever]] were diagnosed along with valvular heart disease. | In some young individuals [[polyarticular arthropathy]] and [[rheumatic fever]] were also diagnosed along with valvular heart disease. | ||
==References== | ==References== | ||
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[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Grammar]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Revision as of 19:13, 24 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
Rare progressive genetic disease characterized by premature aging and structural cardiac defects seen in a German family.
Pathophysiology
Storm syndrome a rare genetic disease of the connective tissue, is transmitted from male to male. It is characterized by early progressive calcific cardiac valvular disease which dominate the clinical picture. <itral valves and aortic valves are involved predominantly in the disease process
Differentiating from other diseases
Differences from Werner syndrome were dominant inheritance and lack of cataracts and scleroderma-type changes.
Diagnosis
Symptoms
- Premature aging
- Cardiac symptoms
- Intestinal fat malabsorption
Physical Examination
- Taut skin over hands and face
- Excessive wrinkling of the palmar skin - giving an aged appearance
- Loss of eye brows and eyelashes
- Thinning and graying of scalp hair in adolescents
In some young individuals polyarticular arthropathy and rheumatic fever were also diagnosed along with valvular heart disease.