Eccentrochondrodysplasia
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief:Raviteja Guddeti, M.B.B.S.[2]
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.
Looking for the patient version?
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH