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
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:
- Musculoskeletal disorders
- Heart valve defects
- Facial anomalies.
References