Eccentrochondrodysplasia: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{CMG}}; '''Associate Editor(s)-In-Chief:'''[[User:Raviteja Reddy Guddeti|Raviteja Guddeti, M.B.B.S.]][mailto: | {{SI}} | ||
{{CMG}}; '''Associate Editor(s)-In-Chief:'''[[User:Raviteja Reddy Guddeti|Raviteja Guddeti, M.B.B.S.]][mailto:ravitheja.g@gmail.com] | |||
==Overview== | ==Overview== | ||
Eccentrochondrodysplasia is a rare [[inherited]] biochemical disorder. | |||
==Pathophysiology== | |||
This disease is characterized by the accumulation of mucopolysaccharides ([[glycosaminoglycans]]) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. | |||
==Associated conditions== | |||
Eccentrochondrodysplasia is characterized by: | |||
* [[Dwarfism]] | |||
* Musculoskeletal disorders | |||
* Heart valve defects | |||
* [[Hepatomegaly]] | |||
* [[Osteoporosis]] | |||
* Facial anomalies. | |||
==References== | ==References== | ||
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[[Category: | [[Category:Disease]] | ||
[[Category:Genetics]] | |||
[[Category:Grammar]] | [[Category:Grammar]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} |
Latest revision as of 14:19, 2 November 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
Eccentrochondrodysplasia is a rare inherited biochemical disorder.
Pathophysiology
This disease is characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
Associated conditions
Eccentrochondrodysplasia is characterized by:
- Dwarfism
- Musculoskeletal disorders
- Heart valve defects
- Hepatomegaly
- Osteoporosis
- Facial anomalies.
References