Eccentrochondrodysplasia

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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.

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.