Eccentrochondrodysplasia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief:Raviteja Guddeti, M.B.B.S.[2]

Eccentrochondrodysplasia is a rare inherited biochemical disorder.

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.

Eccentrochondrodysplasia is characterized by:

• Dwarfism
• Musculoskeletal disorders
• Heart valve defects
• Hepatomegaly
• Osteoporosis
• Facial anomalies.

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