In this mucopolysaccharidosis, individuals are abnormally short and have a "gargoyle" appearance with coarse facial features. Patients are mentally retarded, and the heart is damaged due to accumulation of mucopolysaccharides in the blood vessels. Hepatosplenomegaly is present.

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The description matches that of Hurler's syndrome, which is a mucopolysaccharidosis characterized by short stature, coarse facial features, and mental retardation. The accumulation of mucopolysaccharides also affects the heart and liver, resulting in hepatosplenomegaly. Hunter's syndrome also causes mucopolysaccharide buildup, but it primarily affects the bones and joints, while Sanfilippo's syndrome and Scheie's syndrome have different symptom presentations.

In This Mucopolysaccharidosis, Individuals Are Abnormally Short and Have a "Gargoyle