Eccentrochondrodysplasia

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Articles
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Evidence Based Medicine
Cochrane Collaboration on Eccentrochondrodysplasia Bandolier on Eccentrochondrodysplasia TRIP on Eccentrochondrodysplasia
Clinical Trials
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Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Eccentrochondrodysplasia NICE Guidance on Eccentrochondrodysplasia NHS PRODIGY Guidance FDA on Eccentrochondrodysplasia CDC on Eccentrochondrodysplasia
Books
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Commentary
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Definitions
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Patient Resources / Community
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Healthcare Provider Resources
Symptoms of Eccentrochondrodysplasia Causes & Risk Factors for Eccentrochondrodysplasia Diagnostic studies for Eccentrochondrodysplasia Treatment of Eccentrochondrodysplasia
Continuing Medical Education (CME)
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International
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Business
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Experimental / Informatics
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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 characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. The disease is characterized by dwarfism, musculoskeletal disorders, heart valve defects, hepatomegaly, osteoporosis and facial anomalies.