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All Diseases > Sly syndrome
Sly syndrome (MPS VII)
Alternative Names: Beta-Glucuronidase Deficiency (GUSB Deficiency); Mucopolysaccharidosis VII; Mucopolysaccharidosis 7; MPS Disorder-Type7 (MPS 7)
Disease Category: Lysosomal Diseases
A rare, inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down glycosaminoglycans (GAGs, complex sugar molecules with amino groups that are critical components of connective tissues). Possible symptoms include hydrops fetalis (fluid accumulation throughout the body prior to birth), hydrocephalus (fluid accumulation in the brain), skeletal and heart valve abnormalities, facial dysmorphism (abnormal difference in structure), hepatosplenomegaly (liver and spleen enlargement), a narrow airway, vision and hearing loss, recurrent infections, apnea (cessation of breathing especially during sleep), carpal tunnel syndrome, and hernias (intestinal protrusions in the abdomen).