Sanfilippo Syndrome

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Sanfilippo syndrome, also known as MPS III, is an inherited metabolic disorder characterized by the inability to properly break down long chains of sugar molecules called glycosaminoglycans. It occurs when enzymes needed to break down these molecules are defective or missing. Symptoms commonly appear after the first year of life and include below average height, developmental delays, behavioral problems, coarse facial features, full lips, diarrhea, sleeping problems, stiff joints and walking problems. There currently is no treatment for Sanfilippo syndrome, and interventions target specific symptoms.

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