Sanfilippo Syndrome
Alternate Names : Acetyl-CoA Alpha-Glucosaminide N-Acetyltransferase Deficiency (Type IIIC), Heparan Sulfate Sulfatase Deficiency (Type IIIA), Mucopolysaccharidosis Type III (Subtypes A - B - C - D), N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency (Type IIID), N-Acetylglucosaminidase Deficiency (Type IIIB)
Sanfilippo Syndrome Symptoms & Signs
- 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
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