A 30-month-old child presents with coarse facial features, corneal clouding, hepatosplenomegaly, and exhibiting disproportionate short-trunk dwarfism. Radiographic analysis indicates enlargement of the diaphyses of the long bones and irregular metaphyses, along with poorly developed epiphyseal centers. Other skeletal abnormalities typify the features comprising dystosis multiplex. The child's physical stature and the analysis of bone development indicate the child is suffering from which of the following disorders?

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The symptoms described, including coarse facial features, corneal clouding, hepatosplenomegaly, and skeletal abnormalities (dystosis multiplex), are characteristic of Hurler syndrome (Mucopolysaccharidosis type I).  Although multiorgan involvement, liver and spleen enlargement, and skeletal abnormalities are common to all the mucopolysaccharidotic (MPS) diseases, each encompasses features that allow for specific diagnosis. Hurler syndrome is characterized by progressive multiorgan failure and premature death. Hallmark features include enlargement of the spleen and liver, severe skeletal deformity, and coarse facial features (which are associated with the constellation of defects referred to as dystosis multiplex). The disease results from a defect in α-l-iduronidase activity, which leads to intracellular accumulations of heparan sulfates and dermatan sulfates. The accumulation of these GAGs (glycosaminoglycans) in Hurler syndrome patients severely affect development of the skeletal system leading, primarily, to defective long bone growth plate disruption.

A 30-Month-Old Child Presents with Coarse Facial Features, Corneal Clouding