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Sanfilippo syndrome

Symptoms: Family history of Sanfilippo syndrome May have normal growth during first few years, but final height is below average Delayed development followed by deteriorating mental status Deterioration of gait Coarse facial features Full lips Heavy eyebrows that meet in the middle of the face above the nose Diarrhea Stiff joints that may not extend fully Signs and tests: Hepatomegaly (liver enlargement) Spleen enlargement Clear corneas Echocardiogram may show thickened heart Abnormal bone x-rays, such as thickened skull and oval vertebrae Seizures, mental retardation Activities of one of the enzymes (listed above in "Alternative Names") may be low in fibroblast skin cells Urine may have increased heparan sulfate Abnormal, pathological staining character of white blood cells called metachromasia

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