Sanfilippo Syndrome often goes misdiagnosed for years.  The clues are there, we need your help to find these children.


“Levi had frequent ear infections …His head was a little larger than most boys his age, so we had an MRI done. The results came back with no explanations…we noticed a little delay in his speech, but our pediatrician said not to worry, that he would be fine and that we should just give him time… Around age 5, doctors said he had ADHD. We dealt with it…We had his tested for Autism. At that point, we began feeling helpless, knowing our child was regressing in almost every way, but being unable to get answers as to why it was happening or how to help him.” -Christi Omeroid, Levi’s Mother



The Features of Sanfilippo Syndrome are Clinically Described as Coarse.

  • Broad nose with a flat bridge
  • Thick fleshy skin
  • Frontal lobe bossing-prominent, protruding forehead
  • Macrocephaly-Big head
  • Heavy eyebrows that meet in the middle of the face above the nose.
  • Fleshy Eyelids
  • Full lips
  • Postnatal Macrocephaly-prominent eyes


Other Symptoms

  • Hepatomegaly-enlarged liver
  • Sleep difficulties
  • Attention Deficit Hyperactivity Disorder
  • Chronic Diarrhea
  • Umbilical Hernia
  • Cognitive Impairment
  • Perivascular Spaces
  • Recurrent Otitis Media-recurring upper respiratory tract infections


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