Hunter Syndrome (Mucopolysaccharidosis Type II)

Mucopolysaccharidosis type II (MPS II) is a rare lysosomal inborn error of metabolism that affects every organ of the body. Although the age of onset, disease severity and the rate of progression of the disease vary significantly, initial symptoms and findings associated with MPS II usually become apparent in children from two to four years of age. Manifestations of MPS II may include not inflammatory joint stiffness, with associated restriction of movements; and coarsening of facial features, including thickening of the lips, tongue (macroglossia), and nostrils.