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All Diseases > Morquio syndrome
Morquio syndrome (MPS IV)
Alternative Names: Mucopolysaccharidosis IV; MPS IV Type A (MPS IVA); MPS IV Type B (MPS IVB); MPS IV; MPS IVA; MPS IVB
Disease Category: Lysosomal Diseases
A rare, inherited, lysosomal disorder, caused by two missing or abnormal enzymes that cannot break down glycosaminoglycans (GAGs, complex sugar molecules with amino groups that are critical components of connective tissues). Symptoms include hepatomegaly (liver enlargement), respiratory problems, vision and hearing loss, hernias (intestinal protrusions in the abdomen), joint hypermobility (laxity), and dental, heart valve, and skeletal abnormalities. Odontoid process hypoplasia (bony malformation resulting in a smaller, peg-like, bony structure of the second vertebra in the neck) may cause spinal cord compression, leading to paralysis.