Hunter Syndrome

A hereditary disease in which the breakdown of mucopolysaccharide is defective. As this chemical builds up, it causes a characteristic facial appearance, abnormal function of multiple organs and, in severe cases, death. Hunter Syndrome appears in juvenile and late form. Symptoms vary for each form but some common characteristics include coarse facial features, large head, stiffening of joints, increased hair, deafness, enlargement of internal organs, abnormal retina and carpal tunnel syndrome. Diagnostic exams and tests look for hepatomegaly, splenomegaly, inguinal hernia, spasticity, heart murmur, joint contractures, excretion of heparan sulfate and dermatan sulfate in urine, and decreased iduronate sulfatase enzyme activity in serum or cells. Treatment options for Hunter Syndrome include Elaprase and bone marrow transplants.