Eccentrochondrodysplasia
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
Symptoms
* Dwarfism * Knock-knees * Kyphoscoliosis * Osteopetrosis * Osteoporosis * Severe short stature * Eye defects * Severe vertebral abnormalities * Spinal curvature * Joint abnormalities * Unusual facial features * Dish-like face * Heart valve defects * Hernia * Enlarged liver * Wide set eyes * Proptosis * Optic atrophy * Corneal clouding * Conductive hearing loss
Diagnosis
signs and symptoms of Eccentrochondrodysplasia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Eccentrochondrodysplasia symptoms.