is the most severe form of mucopolysaccharidosis type 1(MPS1; see this term), a rare lysosomal storage disease, characterized by facial dysmorphisms, skeletal deformities, cardiac and ocular involvement as well as delay in motor and intellectual development. The prevalence of MPS I has been estimated at 1/100,000, with Hurler syndrome accounting for 57% of cases or a prevalence of approximately 1/175,000. (Source: Orphanet)
No information available from this source.
This disease is not (yet) listed on their website.
