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