Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Eccentrochondrodysplasia
Introduction
Pathophysiology
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
Associated conditions
Eccentrochondrodysplasia is characterized by:
- Dwarfism
- Musculoskeletal disorders
- Heart valve defects
- Hepatomegaly
- Osteoporosis
- Facial anomalies.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief:Raviteja Guddeti, M.B.B.S.[2]