(Science: syndrome) a recessive mucopolysaccharidosis, also designated mucopolysaccharidosis ii, caused by a deficiency of the enzyme iduronate sulphate sulphatase which breaks down dermatan sulphate and heparen sulphate and consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage.
in its severe form this x-linked disease presents with coarse facial features, short stature, skeletal dysplasia, retinitis pigmentosa, hepatosplenomegaly, neurologic deterioration, and death in childhood. It is often distinguished clinically from hurler syndrome by the absence of corneal clouding. Milder forms allow for survival to adulthood with minimal neurologic problems. Patients have the two types of sulphates in their urine.
Inheritance: sex-linked (X chromosome).